{"id":3602,"date":"2022-07-21T17:40:39","date_gmt":"2022-07-21T17:40:39","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?page_id=3602"},"modified":"2023-07-10T14:12:32","modified_gmt":"2023-07-10T14:12:32","slug":"the-syndrome","status":"publish","type":"page","link":"https:\/\/dupmecp2.eu\/en\/the-syndrome\/","title":{"rendered":"The syndrome"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"3602\" class=\"elementor elementor-3602\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3eab2428 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-section-height-default\" data-id=\"3eab2428\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-6fabad1c\" data-id=\"6fabad1c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3250f006 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-inherit elementor-widget elementor-widget-spacer\" data-id=\"3250f006\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;],&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:0,&quot;end&quot;:100}}}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-22d9ca25 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-inherit elementor-widget elementor-widget-spacer\" data-id=\"22d9ca25\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.8&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;],&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:0,&quot;end&quot;:100}}}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-8906d8f elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"8906d8f\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-5c28bfb5\" data-id=\"5c28bfb5\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-50d06bfa elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"50d06bfa\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;,&quot;_animation_mobile&quot;:&quot;none&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">The syndrome<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6b15f1c elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-hidden-desktop elementor-hidden-tablet elementor-section-height-default\" data-id=\"6b15f1c\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-43c1a80\" data-id=\"43c1a80\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e41c3d9 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"e41c3d9\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4c306fd elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"4c306fd\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c22940d elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c22940d\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-e13c20d\" data-id=\"e13c20d\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-db2695f elementor-widget elementor-widget-text-editor\" data-id=\"db2695f\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h5>\u00ab MECP2 duplication syndrome is a severe disease which changes the life of the whole family. We hope to bring comfort and support to the families dealing with such a tough diagnosis. \u00bb<\/h5>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5085896 elementor-widget elementor-widget-text-editor\" data-id=\"5085896\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Caroline Covini, Vice-president<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-090d1a0 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-hidden-mobile elementor-section-height-default\" data-id=\"090d1a0\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-a87dfb7\" data-id=\"a87dfb7\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-60f4bd8 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"60f4bd8\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a0bcf0d elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"a0bcf0d\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-831d3a8 elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"831d3a8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-5728d0e\" data-id=\"5728d0e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-b7be9ec elementor-widget elementor-widget-text-editor\" data-id=\"b7be9ec\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u00ab MECP2 duplication syndrome is a severe disease which changes the life of the whole family. We hope to bring comfort and support to the families dealing with such a tough diagnosis. \u00bb<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c226aa4 elementor-widget elementor-widget-text-editor\" data-id=\"c226aa4\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Caroline Covini, Vice-president<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-f640ac4 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f640ac4\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-b223977\" data-id=\"b223977\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-65b0025 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"65b0025\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-a2b1ff3\" data-id=\"a2b1ff3\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-bfb1b0e elementor-hidden-mobile elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"bfb1b0e\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;sticky&quot;:&quot;top&quot;,&quot;sticky_offset&quot;:230,&quot;sticky_parent&quot;:&quot;yes&quot;,&quot;sticky_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;,&quot;mobile&quot;],&quot;sticky_effects_offset&quot;:0,&quot;sticky_anchor_link_offset&quot;:0}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-16e66e1\" data-id=\"16e66e1\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7b9ba3a elementor-nav-menu__align-start elementor-hidden-mobile elementor-nav-menu--dropdown-tablet elementor-nav-menu__text-align-aside elementor-nav-menu--toggle elementor-nav-menu--burger elementor-widget elementor-widget-nav-menu\" data-id=\"7b9ba3a\" data-element_type=\"widget\" data-settings=\"{&quot;layout&quot;:&quot;vertical&quot;,&quot;submenu_icon&quot;:{&quot;value&quot;:&quot;&lt;svg class=\\&quot;e-font-icon-svg e-fas-plus\\&quot; viewBox=\\&quot;0 0 448 512\\&quot; xmlns=\\&quot;http:\\\/\\\/www.w3.org\\\/2000\\\/svg\\&quot;&gt;&lt;path d=\\&quot;M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\\&quot;&gt;&lt;\\\/path&gt;&lt;\\\/svg&gt;&quot;,&quot;library&quot;:&quot;fa-solid&quot;},&quot;toggle&quot;:&quot;burger&quot;}\" data-widget_type=\"nav-menu.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t<nav aria-label=\"Menu\" class=\"elementor-nav-menu--main elementor-nav-menu__container elementor-nav-menu--layout-vertical e--pointer-text e--animation-none\">\n\t\t\t\t<ul id=\"menu-1-7b9ba3a\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3611\"><a href=\"\/en\/the-syndrome\/#decouverte\" class=\"elementor-item elementor-item-anchor\">The discovery of the syndrome<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/en\/the-syndrome\/#cause\" class=\"elementor-item elementor-item-anchor\">Origin<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/en\/the-syndrome\/#transmission\" class=\"elementor-item elementor-item-anchor\">Transmission<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/en\/the-syndrome\/#symptomes\" class=\"elementor-item elementor-item-anchor\">Symptoms<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/en\/the-syndrome\/#diagnostic\" class=\"elementor-item elementor-item-anchor\">Diagnosis<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/en\/the-syndrome\/#prevalence\" class=\"elementor-item elementor-item-anchor\">Prevalence<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/en\/the-syndrome\/#syndrome\" class=\"elementor-item elementor-item-anchor\">Syndrome in video<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/en\/the-syndrome\/#autres\" class=\"elementor-item elementor-item-anchor\">Other genetic duplications<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/en\/the-syndrome\/#rett\" class=\"elementor-item elementor-item-anchor\">Rett syndrome<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t<div class=\"elementor-menu-toggle\" role=\"button\" tabindex=\"0\" aria-label=\"Menu Toggle\" aria-expanded=\"false\">\n\t\t\t<svg aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--open e-font-icon-svg e-eicon-menu-bar\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M104 333H896C929 333 958 304 958 271S929 208 896 208H104C71 208 42 237 42 271S71 333 104 333ZM104 583H896C929 583 958 554 958 521S929 458 896 458H104C71 458 42 487 42 521S71 583 104 583ZM104 833H896C929 833 958 804 958 771S929 708 896 708H104C71 708 42 737 42 771S71 833 104 833Z\"><\/path><\/svg><svg aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--close e-font-icon-svg e-eicon-close\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M742 167L500 408 258 167C246 154 233 150 217 150 196 150 179 158 167 167 154 179 150 196 150 212 150 229 154 242 171 254L408 500 167 742C138 771 138 800 167 829 196 858 225 858 254 829L496 587 738 829C750 842 767 846 783 846 800 846 817 842 829 829 842 817 846 804 846 783 846 767 842 750 829 737L588 500 833 258C863 229 863 200 833 171 804 137 775 137 742 167Z\"><\/path><\/svg>\t\t<\/div>\n\t\t\t\t\t<nav class=\"elementor-nav-menu--dropdown elementor-nav-menu__container\" aria-hidden=\"true\">\n\t\t\t\t<ul id=\"menu-2-7b9ba3a\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3611\"><a href=\"\/en\/the-syndrome\/#decouverte\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">The discovery of the syndrome<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/en\/the-syndrome\/#cause\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Origin<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/en\/the-syndrome\/#transmission\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Transmission<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/en\/the-syndrome\/#symptomes\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Symptoms<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/en\/the-syndrome\/#diagnostic\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Diagnosis<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/en\/the-syndrome\/#prevalence\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Prevalence<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/en\/the-syndrome\/#syndrome\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Syndrome in video<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/en\/the-syndrome\/#autres\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Other genetic duplications<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/en\/the-syndrome\/#rett\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Rett syndrome<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-80cae04\" data-id=\"80cae04\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-b04d40a elementor-hidden-tablet elementor-hidden-mobile elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"b04d40a\" data-element_type=\"section\" data-settings=\"{&quot;sticky&quot;:&quot;top&quot;,&quot;sticky_offset&quot;:210,&quot;sticky_parent&quot;:&quot;yes&quot;,&quot;sticky_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;,&quot;mobile&quot;],&quot;sticky_effects_offset&quot;:0,&quot;sticky_anchor_link_offset&quot;:0}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-01e6b18\" data-id=\"01e6b18\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e9cabf7 elementor-widget-mobile__width-auto elementor-view-default elementor-widget elementor-widget-icon\" data-id=\"e9cabf7\" data-element_type=\"widget\" data-settings=\"{&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_devices&quot;:[&quot;desktop&quot;]}\" data-widget_type=\"icon.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-wrapper\">\n\t\t\t<div class=\"elementor-icon\">\n\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-square\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M400 32H48C21.5 32 0 53.5 0 80v352c0 26.5 21.5 48 48 48h352c26.5 0 48-21.5 48-48V80c0-26.5-21.5-48-48-48z\"><\/path><\/svg>\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c30ac34 elementor-widget-mobile__width-auto elementor-view-default elementor-widget elementor-widget-icon\" data-id=\"c30ac34\" data-element_type=\"widget\" data-widget_type=\"icon.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-wrapper\">\n\t\t\t<div class=\"elementor-icon\">\n\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-square\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M400 32H48C21.5 32 0 53.5 0 80v352c0 26.5 21.5 48 48 48h352c26.5 0 48-21.5 48-48V80c0-26.5-21.5-48-48-48z\"><\/path><\/svg>\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-330cc66\" data-id=\"330cc66\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-e1fbbaf elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"e1fbbaf\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-770f091\" data-id=\"770f091\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e6616db elementor-widget elementor-widget-menu-anchor\" data-id=\"e6616db\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"decouverte\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-abe5c07 elementor-widget elementor-widget-heading\" data-id=\"abe5c07\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\"><span style=\"color: var( --e-global-color-primary );font-size: var( --e-global-typography-primary-font-size );font-weight: var( --e-global-typography-primary-font-weight );text-align: center;background-color: var( --e-global-color-c15569b )\">Discovery of the syndrome<\/span><\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6859440 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"6859440\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-a6ad902 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a6ad902\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-395aace\" data-id=\"395aace\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-867ef2c e-transform elementor-widget elementor-widget-menu-anchor\" data-id=\"867ef2c\" data-element_type=\"widget\" id=\"anchor\" data-settings=\"{&quot;_transform_translateX_effect&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateX_effect_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateX_effect_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]}}\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"cause\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-40899d5 elementor-widget elementor-widget-heading\" data-id=\"40899d5\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Origin<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9b3ffcd elementor-widget elementor-widget-text-editor\" data-id=\"9b3ffcd\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>MECP2 duplication syndrome is a rare genetic disorder affecting mainly boys. The syndrome is caused by a duplication of genetic material located on the terminal region (Xq28) of the X chromosome, involving the MECP2 gene as well as other related genes (<em>IRAQ1<\/em>, <em>GDI1<\/em>, <em>FLNA<\/em>, <em>L1CAM<\/em>, <em>IDH3G<\/em>\u2026). The size of the duplication and the severity of the symptoms vary greatly from one patient to another without, however, establishing strong links between these two variables.<\/p><p>The protein encoded by the MECP2 gene, called MeCP2 (methyl CpG binding protein 2), plays a central role in the regulation of other proteins responsible for brain development and function.<\/p><p>Duplication of the gene leads to overproduction of the MeCP2 protein, thus preventing the regulation of other proteins. This results, clinically, in moderate to severe intellectual disability (ID), delayed psychomotor development, and very poor or absent language.<\/p><p>When mutations lead to the production of a non-functional MeCP2 protein, symptoms similar to MECP2 duplication syndrome appear. This is called Rett syndrome. <a href=\"#rett\">Rett syndrome<\/a>.<\/p><p>Consequently, the amount of MeCP2 protein present in the tissues must be precisely regulated: neither too low, nor too high, to ensure the proper functioning of the neuronal network.<\/p><p>\u00a0<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-21850ff elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"21850ff\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-66077e2 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"66077e2\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-ed99a8a\" data-id=\"ed99a8a\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-0ea8406 elementor-widget elementor-widget-menu-anchor\" data-id=\"0ea8406\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"transmission\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4b082aa elementor-widget elementor-widget-heading\" data-id=\"4b082aa\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Transmission<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ed0f57f elementor-widget elementor-widget-text-editor\" data-id=\"ed0f57f\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Duplication of the MECP2 gene is caused by a mutation located on the terminal region of the X chromosome. In more than 90% of cases, the duplication is inherited from an asymptomatic carrier mother. The term carrier is used when the person is a carrier of the genetic defect, but this defect is not manifested clinically.\u00a0\u00a0<\/p><p>During a pregnancy, there is a 50% chance of giving birth to an affected boy and a 50% chance of giving birth to a girl with the mutation. <span style=\"color: var( --e-global-color-text ); font-family: var( --e-global-typography-text-font-family ), Sans-serif; font-style: var( --e-global-typography-text-font-style ); font-weight: var( --e-global-typography-text-font-weight ); text-transform: var( --e-global-typography-text-text-transform ); background-color: var( --e-global-color-c15569b );\">Very rarely do girls develop a symptomatic form of the disease.<\/span><\/p><p>Males (XY) have only one X chromosome. The duplication of the MECP2 gene causes severe symptoms in any case.<\/p><p>In contrast to men, women (XX) have two X chromosomes. A duplication of the MECP2 gene very rarely affects a woman, because the X chromosome with duplicated material is inactivated and the MeCP2 protein level remains normal.<\/p><p>In rare cases, the mutation is expressed in women because of unfavorable inactivation of the mutated X chromosome, or because the mutation is transposed to another chromosome. In both cases, symptoms range from psychiatric problems (depression and anxiety) to severe symptoms identical to those found in affected men.<\/p><p>Duplication of the MECP2 gene can also occur during fertilization. This is called a <em>de novo<\/em> de novo mutation because neither parent carries the genetic mutation.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5700a13 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"5700a13\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c8f34c8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c8f34c8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-4f7c1de\" data-id=\"4f7c1de\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-8dbc19f elementor-widget elementor-widget-menu-anchor\" data-id=\"8dbc19f\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"symptomes\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-18dbc90 elementor-widget elementor-widget-heading\" data-id=\"18dbc90\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Symptoms<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7a3a6d7 elementor-widget elementor-widget-text-editor\" data-id=\"7a3a6d7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The main symptoms found in patients with MECP2 duplication syndrome are:<\/p><ul><li><strong>Severe intellectual disorder<\/strong><\/li><li><strong>Developmental delay\u00a0<\/strong><\/li><li><strong>Impaired motor coordination (ataxia)<\/strong><\/li><li><strong>Lack of language<\/strong><\/li><li><strong>Lack of muscle tone (hypotonia) and progressive spasticity\u00a0<\/strong><\/li><li><strong>Epilepsy\u00a0<\/strong><\/li><li><strong>Recurrent infections\u00a0<\/strong><\/li><li><strong>Reduced sensitivity to pain<\/strong><\/li><li><strong>Gastrointestinal disorders (reflux or constipation)<\/strong><\/li><li><strong>Dental oral disorders\u00a0<\/strong><\/li><li><strong>Ophthalmologic and hearing disorders<\/strong><\/li><li><strong>Autistic features<\/strong><\/li><li><strong>Early morbidity<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e6f4477 elementor-widget elementor-widget-text-editor\" data-id=\"e6f4477\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p class=\"MsoNormal\">However, documented cases of MECP2 duplication syndrome are limited. A child with the syndrome may not have all the symptoms listed. In addition, the symptoms and their intensity may change with age.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-40028e4 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"40028e4\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-06af0b0 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"06af0b0\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-6f610f4\" data-id=\"6f610f4\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3611040 elementor-widget elementor-widget-menu-anchor\" data-id=\"3611040\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"diagnostic\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5cb7021 elementor-widget elementor-widget-heading\" data-id=\"5cb7021\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Diagnosis<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4c5df0a elementor-widget elementor-widget-text-editor\" data-id=\"4c5df0a\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p class=\"MsoNormal\"><span lang=\"FR\">It is difficult to establish because the clinical forms are diverse and health professionals, apart from specialists, are not familiar with recognizing them.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1fc9f0d elementor-widget elementor-widget-heading\" data-id=\"1fc9f0d\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Signs in the first year of life<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4ac98da elementor-widget elementor-widget-text-editor\" data-id=\"4ac98da\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The diagnosis can be evoked on the clinical presentation, in a male child presenting a combination of the following signs:\u00a0<\/p><ul><li aria-level=\"1\"><strong>Hypotonia<\/strong><\/li><li aria-level=\"1\"><strong>Developmental delay<\/strong><\/li><li aria-level=\"1\"><strong>Gastroesophageal reflux disease<\/strong><\/li><li aria-level=\"1\"><strong>Significant constipation<\/strong><\/li><li aria-level=\"1\"><strong>Recurrent respiratory infections<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c219134 elementor-widget elementor-widget-heading\" data-id=\"c219134\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Signs in children and adults<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ba51912 elementor-widget elementor-widget-text-editor\" data-id=\"ba51912\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The diagnosis must be considered in front of a multiple disability situation with severe ID and very poor or absent language associated with a combination of signs such as:<\/p><ul><li aria-level=\"1\"><strong>Repetitive movements<\/strong><\/li><li aria-level=\"1\"><strong>Epilepsy<\/strong><\/li><li aria-level=\"1\"><strong>Progressive spasticity, especially in the lower limbs<\/strong><\/li><li aria-level=\"1\"><strong>Chronic constipation<\/strong><\/li><li aria-level=\"1\"><strong>Recurring respiratory infections<\/strong><\/li><li aria-level=\"1\"><strong>Morphological particularities of the face<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-746f63a elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"746f63a\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-dba5f04 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"dba5f04\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-0146797\" data-id=\"0146797\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e12141b elementor-widget elementor-widget-menu-anchor\" data-id=\"e12141b\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"prevalence\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-df9020f elementor-widget elementor-widget-heading\" data-id=\"df9020f\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Prevalence&nbsp;<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6941f7c elementor-widget elementor-widget-text-editor\" data-id=\"6941f7c\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Because MECP2 duplication syndrome is so widely underdiagnosed due to the variability of symptoms, the exact prevalence of the syndrome is currently unknown. It is currently estimated at 1\/150,000 male births.<\/p><p>Currently, the number of cases worldwide is unknown. However, it is possible that MECP2 gene duplication syndrome may account for 1-2% of unexplained intellectual disabilities and\/or autism.\u00a0<\/p><p>Therefore, it is important to record all diagnosed cases through existing registries.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-78e0cd1 elementor-align-left elementor-tablet-align-center elementor-widget elementor-widget-button\" data-id=\"78e0cd1\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm elementor-animation-float\" href=\"https:\/\/dupmecp2.eu\/en\/what-we-do-2\/inform-research\/#registres\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">To the registries<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1a991f5 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"1a991f5\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-61ef200 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"61ef200\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-b5ac4c4\" data-id=\"b5ac4c4\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7b434cd elementor-widget elementor-widget-menu-anchor\" data-id=\"7b434cd\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"syndrome\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7ea7935 elementor-widget elementor-widget-heading\" data-id=\"7ea7935\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Syndrome in video<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-51f7333 elementor-widget elementor-widget-text-editor\" data-id=\"51f7333\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p class=\"mbr-section-title display-2\">Families affected by the MECP2 duplication syndrome present the syndrome on video. Find the videos here.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-22993a1 elementor-skin-coverflow elementor-arrows-yes elementor-pagination-type-bullets elementor-pagination-position-outside elementor-widget elementor-widget-media-carousel\" data-id=\"22993a1\" data-element_type=\"widget\" data-settings=\"{&quot;skin&quot;:&quot;coverflow&quot;,&quot;slides_per_view&quot;:&quot;1&quot;,&quot;show_arrows&quot;:&quot;yes&quot;,&quot;pagination&quot;:&quot;bullets&quot;,&quot;speed&quot;:500,&quot;autoplay&quot;:&quot;yes&quot;,&quot;autoplay_speed&quot;:5000,&quot;loop&quot;:&quot;yes&quot;,&quot;pause_on_hover&quot;:&quot;yes&quot;,&quot;pause_on_interaction&quot;:&quot;yes&quot;,&quot;space_between&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]},&quot;space_between_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]},&quot;space_between_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]}}\" data-widget_type=\"media-carousel.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-swiper\">\n\t\t\t\t\t<div class=\"elementor-main-swiper swiper\" role=\"region\" aria-roledescription=\"carousel\" aria-label=\"Slajdy\" data-no-translation-aria-label=\"\">\n\t\t\t\t<div class=\"swiper-wrapper\">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-401-e1659100814756.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Video 401\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6NDE2MSwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8wN1wvVmlkZW8tNDAxLWUxNjU5MTAwODE0NzU2LmpwZyIsInNsaWRlc2hvdyI6IjIyOTkzYTEifQ%3D%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/nmIziKaRkAY?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Video 401\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-401-e1659100814756.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\" data-no-translation=\"\" data-trp-gettext=\"\">Gra\u0107<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Melker.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Melker\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6OTk3MiwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8xMVwvTWVsa2VyLmpwZyIsInNsaWRlc2hvdyI6IjIyOTkzYTEifQ%3D%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/lUr5jduQ45g?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Melker\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Melker.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\" data-no-translation=\"\" data-trp-gettext=\"\">Gra\u0107<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-Aleix-e1659101544941.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Video Aleix\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6NDE3MiwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8wN1wvVmlkZW8tQWxlaXgtZTE2NTkxMDE1NDQ5NDEuanBnIiwic2xpZGVzaG93IjoiMjI5OTNhMSJ9\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/9z0hG-8LOYE?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Video Aleix\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-Aleix-e1659101544941.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\" data-no-translation=\"\" data-trp-gettext=\"\">Gra\u0107<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/project401.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"project401\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6OTk4OCwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8xMVwvcHJvamVjdDQwMS5qcGciLCJzbGlkZXNob3ciOiIyMjk5M2ExIn0%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/QJGe9G8TvVs?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"project401\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/project401.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\" data-no-translation=\"\" data-trp-gettext=\"\">Gra\u0107<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"elementor-swiper-button elementor-swiper-button-prev\" role=\"button\" tabindex=\"0\" aria-label=\"Poprzedni\" data-no-translation-aria-label=\"\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-chevron-left\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M646 125C629 125 613 133 604 142L308 442C296 454 292 471 292 487 292 504 296 521 308 533L604 854C617 867 629 875 646 875 663 875 679 871 692 858 704 846 713 829 713 812 713 796 708 779 692 767L438 487 692 225C700 217 708 204 708 187 708 171 704 154 692 142 675 129 663 125 646 125Z\"><\/path><\/svg>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<div class=\"elementor-swiper-button elementor-swiper-button-next\" role=\"button\" tabindex=\"0\" aria-label=\"Nast\u0119pny\" data-no-translation-aria-label=\"\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-chevron-right\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M696 533C708 521 713 504 713 487 713 471 708 454 696 446L400 146C388 133 375 125 354 125 338 125 325 129 313 142 300 154 292 171 292 187 292 204 296 221 308 233L563 492 304 771C292 783 288 800 288 817 288 833 296 850 308 863 321 871 338 875 354 875 371 875 388 867 400 854L696 533Z\"><\/path><\/svg>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-pagination\"><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-79e9238 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"79e9238\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c5a37ac elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c5a37ac\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-1d6a8bd\" data-id=\"1d6a8bd\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a3e70b5 elementor-widget elementor-widget-menu-anchor\" data-id=\"a3e70b5\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"autres\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5060bc7 elementor-widget elementor-widget-heading\" data-id=\"5060bc7\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Other genetic duplications<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-28f3f7a elementor-widget elementor-widget-text-editor\" data-id=\"28f3f7a\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>There are a large number of genetic diseases caused by gene duplications.&nbsp;<\/p>\n<p>These diseases are expressed by different symptoms, but the principle of treatment of a duplication could be applied to another syndrome resulting from the duplication of a gene.<\/p>\n<p>Scientific advances in one duplication can therefore lead to progress in others.<\/p>\n<p><strong><em>A complete article about other genetic duplications is in preparation. For more details, come back later\u2026<\/em><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e760a9b elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"e760a9b\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-a30ff44 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a30ff44\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-16d8d75\" data-id=\"16d8d75\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e0c756a elementor-widget elementor-widget-menu-anchor\" data-id=\"e0c756a\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"rett\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cce4037 elementor-widget elementor-widget-heading\" data-id=\"cce4037\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Rett syndrome<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b3071d7 elementor-widget elementor-widget-text-editor\" data-id=\"b3071d7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>In contrast to MECP2 duplication syndrome, mutations in the MECP2 gene can occur during fertilization and can lead to the production of a non-functional or less active MeCP2 protein.<\/p><p>Mutations that inactivate the MECP2 gene or decrease the activity of the MECP2 protein are responsible for Rett syndrome, whose symptoms are similar to MECP2 duplication syndrome.<\/p><p>Rett syndrome was first described in 1966 by Andreas Rett. It is mainly expressed in girls, with an incidence of 1 in 10,000 to 15,000 births. However, a few rare cases of Rett syndrome have been diagnosed in boys.<\/p><p>The syndrome is relatively well studied, and a marketing authorisation application for a drug (Trofinetide, Acadia) is currently underway in the United States.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7bef612 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"7bef612\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-c289430 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-section-height-default\" data-id=\"c289430\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1857d0a\" data-id=\"1857d0a\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-d86a940 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"d86a940\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f3eb5a6 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"f3eb5a6\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-8fcf034 elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"8fcf034\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-00ed26f\" data-id=\"00ed26f\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-688217c elementor-widget elementor-widget-heading\" data-id=\"688217c\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">We are here for you<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f33c353 elementor-widget elementor-widget-text-editor\" data-id=\"f33c353\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Do not hesitate to contact us and join our fight<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e753aaf elementor-align-center elementor-widget elementor-widget-button\" data-id=\"e753aaf\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/dupmecp2.eu\/en\/contact\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Contact us<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Le syndrome \u00ab\u00a0Le syndrome de duplication du g\u00e8ne MECP2 est une maladie grave qui bouleverse la vie de toute la famille. Nous esp\u00e9rons apporter r\u00e9confort et soutien aux familles confront\u00e9es [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-3602","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Le syndrome - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/en\/the-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le syndrome - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Le syndrome \u00ab\u00a0Le syndrome de duplication du g\u00e8ne MECP2 est une maladie grave qui bouleverse la vie de toute la famille. 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