{"id":15967,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica\/"},"modified":"2023-04-17T15:43:24","modified_gmt":"2023-04-17T15:43:24","slug":"una-breve-historia-del-sindrome-de-duplicacion-de-mecp2-20-anos-de-comprension-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/una-breve-historia-del-sindrome-de-duplicacion-de-mecp2-20-anos-de-comprension-clinica\/","title":{"rendered":"Una breve historia del S\u00edndrome de Duplicaci\u00f3n de MECP2: 20 a\u00f1os de comprensi\u00f3n cl\u00ednica"},"content":{"rendered":"<p><strong>Daniel Ta y sus colaboradores (Instituto Telethon per bambini, Australia) ilustran en su art\u00edculo \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" los descubrimientos en el campo cl\u00ednico relacionados con el s\u00edndrome.<\/strong><\/p>\n\n<p>Daniel Ta <em>et al, <\/em>Breve historia del s\u00edndrome de duplicaci\u00f3n de MECP2: 20 a\u00f1os de comprensi\u00f3n cl\u00ednica, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n<p>REESCRITURA DEL ART\u00cdCULO:<\/p>\n<p>El s\u00edndrome de duplicaci\u00f3n MECP2 (SMD) es una enfermedad rara causada por la duplicaci\u00f3n del gen MECP2 (presente en el cromosoma X), que codifica la prote\u00edna de \"uni\u00f3n a metil-CpG\" (MeCP2). Cuando este mismo gen pierde su funci\u00f3n por mutaci\u00f3n, se habla de s\u00edndrome de Rett (RTT).<\/p>\n<p>El SMD tiene una prevalencia de un caso cada 150.000 nacimientos. Los rasgos principales del SDM incluyen discapacidad intelectual, retraso en el desarrollo, ipoton\u00eda, convulsiones, infecciones respiratorias frecuentes, trastornos del comportamiento autistas y dismorfia, aunque estas comorbilidades a\u00fan no se han descrito completamente. Este art\u00edculo recoge dos d\u00e9cadas de estudio de casos de SDM desde su descubrimiento en 1999. Tras revisar las caracter\u00edsticas notificadas, identifica las \u00e1reas en las que el conocimiento de la enfermedad sigue siendo escaso, y recomienda un mejor conocimiento de la enfermedad mediante una recopilaci\u00f3n internacional de datos. Esto tambi\u00e9n servir\u00eda para aclarar el \u00e1rea de intersecci\u00f3n cl\u00ednica entre los SMD y el RTT.<\/p>\n<p><a role=\"button\" href=\"\/es\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\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\">A la publicaci\u00f3n<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta e i suoi collaboratori (Instituto Telethon per bambini, Australia) illustrano nel loro articolo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb le scoperte [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13091,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[139],"tags":[],"class_list":["post-15967","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-pubblicazioni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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