{"id":9091,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/"},"modified":"2023-01-18T09:41:48","modified_gmt":"2023-01-18T09:41:48","slug":"20-years-of-clinical-understanding","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/20-years-of-clinical-understanding\/","title":{"rendered":"20 years of clinical understanding"},"content":{"rendered":"<p><strong>Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on the syndrome.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>i in, <\/em>Kr\u00f3tka historia zespo\u0142u duplikacji MECP2: 20 lat zrozumienia klinicznego, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n<p><strong>STRESZCZENIE PUBLIKACJI:<\/strong><\/p>\n<p>MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene\u2014a gene in which loss-of-function mutations lead to Rett syndrome (RTT).<\/p>\n<p>MDS has an estimated live birth prevalence in males of 1\/150,000. The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features\u2014although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999. After comprehensively reviewing the reported characteristics, this review has identified areas of limited knowledge that we recommend may be addressed by better phenotyping this disorder through an international data collection. This endeavour would also serve to delineate the clinical overlap between MDS and RTT.<\/p>\n<p>\u00a0<\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8939085\/\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Do publikacji<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4823,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9091","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 years of clinical understanding - 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\/pl\/20-years-of-clinical-understanding\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"20 years of clinical understanding - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/pl\/20-years-of-clinical-understanding\/?lang=en\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-05-05T19:41:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-18T09:41:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"900\" \/>\n\t<meta property=\"og:image:height\" content=\"600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Napisane przez\" \/>\n\t<meta name=\"twitter:data1\" content=\"caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Szacowany czas czytania\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuta\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en\"},\"author\":{\"name\":\"caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835\"},\"headline\":\"20 years of clinical understanding\",\"datePublished\":\"2022-05-05T19:41:00+00:00\",\"dateModified\":\"2023-01-18T09:41:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en\"},\"wordCount\":199,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"articleSection\":[\"Publications\"],\"inLanguage\":\"pl-PL\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en\",\"url\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en\",\"name\":\"20 years of clinical understanding - DupMECP2\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"datePublished\":\"2022-05-05T19:41:00+00:00\",\"dateModified\":\"2023-01-18T09:41:48+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#breadcrumb\"},\"inLanguage\":\"pl-PL\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"pl-PL\",\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage\",\"url\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"contentUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"width\":900,\"height\":600},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Accueil\",\"item\":\"https:\/\/dupmecp2.eu\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Publications\",\"item\":\"https:\/\/dupmecp2.eu\/category\/publications-en\/?lang=en\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"20 years of clinical understanding\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/dupmecp2.eu\/#website\",\"url\":\"https:\/\/dupmecp2.eu\/\",\"name\":\"DupMECP2\",\"description\":\"EU\",\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/dupmecp2.eu\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"pl-PL\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/dupmecp2.eu\/#organization\",\"name\":\"DupMECP2\",\"url\":\"https:\/\/dupmecp2.eu\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"pl-PL\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/\",\"url\":\"\",\"contentUrl\":\"\",\"caption\":\"DupMECP2\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835\",\"name\":\"caroline\",\"url\":\"https:\/\/dupmecp2.eu\/pl\/author\/d20cf5dae17f1d6e\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"20 years of clinical understanding - DupMECP2","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/dupmecp2.eu\/pl\/20-years-of-clinical-understanding\/?lang=en","og_locale":"pl_PL","og_type":"article","og_title":"20 years of clinical understanding - DupMECP2","og_description":"Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]","og_url":"https:\/\/dupmecp2.eu\/pl\/20-years-of-clinical-understanding\/?lang=en","og_site_name":"DupMECP2","article_published_time":"2022-05-05T19:41:00+00:00","article_modified_time":"2023-01-18T09:41:48+00:00","og_image":[{"width":900,"height":600,"url":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","type":"image\/jpeg"}],"author":"caroline","twitter_card":"summary_large_image","twitter_misc":{"Napisane przez":"caroline","Szacowany czas czytania":"1 minuta"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#article","isPartOf":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en"},"author":{"name":"caroline","@id":"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835"},"headline":"20 years of clinical understanding","datePublished":"2022-05-05T19:41:00+00:00","dateModified":"2023-01-18T09:41:48+00:00","mainEntityOfPage":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en"},"wordCount":199,"publisher":{"@id":"https:\/\/dupmecp2.eu\/#organization"},"image":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage"},"thumbnailUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","articleSection":["Publications"],"inLanguage":"pl-PL"},{"@type":"WebPage","@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en","url":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en","name":"20 years of clinical understanding - DupMECP2","isPartOf":{"@id":"https:\/\/dupmecp2.eu\/#website"},"primaryImageOfPage":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage"},"image":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage"},"thumbnailUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","datePublished":"2022-05-05T19:41:00+00:00","dateModified":"2023-01-18T09:41:48+00:00","breadcrumb":{"@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#breadcrumb"},"inLanguage":"pl-PL","potentialAction":[{"@type":"ReadAction","target":["https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en"]}]},{"@type":"ImageObject","inLanguage":"pl-PL","@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#primaryimage","url":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","contentUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","width":900,"height":600},{"@type":"BreadcrumbList","@id":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/?lang=en#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Accueil","item":"https:\/\/dupmecp2.eu\/"},{"@type":"ListItem","position":2,"name":"Publications","item":"https:\/\/dupmecp2.eu\/category\/publications-en\/?lang=en"},{"@type":"ListItem","position":3,"name":"20 years of clinical understanding"}]},{"@type":"WebSite","@id":"https:\/\/dupmecp2.eu\/#website","url":"https:\/\/dupmecp2.eu\/","name":"DupMECP2","description":"UE","publisher":{"@id":"https:\/\/dupmecp2.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/dupmecp2.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"pl-PL"},{"@type":"Organization","@id":"https:\/\/dupmecp2.eu\/#organization","name":"DupMECP2","url":"https:\/\/dupmecp2.eu\/","logo":{"@type":"ImageObject","inLanguage":"pl-PL","@id":"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/","url":"","contentUrl":"","caption":"DupMECP2"},"image":{"@id":"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835","name":"Karolina","url":"https:\/\/dupmecp2.eu\/pl\/author\/d20cf5dae17f1d6e\/"}]}},"_links":{"self":[{"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/posts\/9091","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/comments?post=9091"}],"version-history":[{"count":0,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/posts\/9091\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/media\/4823"}],"wp:attachment":[{"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/media?parent=9091"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/categories?post=9091"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dupmecp2.eu\/pl\/wp-json\/wp\/v2\/tags?post=9091"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}