{"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-jahre-klinisches-verstandnis","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/20-jahre-klinisches-verstandnis\/","title":{"rendered":"20 Jahre klinisches Verst\u00e4ndnis"},"content":{"rendered":"<p><strong>Daniel Ta et al (Telethon Kids Institute, Australia) fassen in ihrem neuen Artikel \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" die klinischen Erkenntnisse \u00fcber das Syndrom zusammen.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>et al, <\/em>A brief history of MECP2 duplication syndrome: 20 years of clinical understanding, <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>VER\u00d6FFENTLICHUNG ABSTRACT:<\/strong><\/p>\n<p>Das MECP2-Duplikationssyndrom (MDS) ist eine seltene, X-verkn\u00fcpfte, neurodevelopmentale St\u00f6rung, die durch eine Duplikation des Methyl-CpG-Bindungsproteins 2 (MECP2)-Gens verursacht wird.<\/p>\n<p>MDS hat eine gesch\u00e4tzte Live-Geburtspr\u00e4valenz bei M\u00e4nnern von 1:150.000. Zu den Hauptmerkmalen von MDS geh\u00f6ren geistige Behinderung, Entwicklungsverz\u00f6gerung, Hypotonie, Anf\u00e4lle, wiederkehrende Atemwegsinfektionen, Magen-Darm-Probleme, Verhaltensmerkmale von Autismus und dysmorphische Merkmale - obwohl diese Komorbidit\u00e4ten noch nicht ausreichend granular verstanden werden. Diese \u00dcbersicht umfasst die letzten zwei Jahrzehnte der MDS-Fallstudien und -serien seit der Entdeckung der Krankheit im Jahr 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 be used to define 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\">Zur Ver\u00f6ffentlichung<\/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 - 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