{"id":7367,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/05\/05\/20-jahre-klinisches-verstaendnis\/"},"modified":"2023-01-13T11:49:43","modified_gmt":"2023-01-13T11:49:43","slug":"20-jahre-klinisches-verstaendnis","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/20-jahre-klinisches-verstaendnis\/","title":{"rendered":"20 Jahre klinisches Verst\u00e4ndnis"},"content":{"rendered":"<p><strong>Daniel Ta et al. (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \"Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\" 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>ZUSAMMENFASSUNG DES ARTIKELS (\u00dcbersetzt aus dem Englischen):<\/p>\n<p>Das MeCP2-Genduplikationssyndrom ist eine seltene, X-chromosomale Erkrankung, die zu einer St\u00f6rung der Neuroentwicklung f\u00fchrt, die durch die Duplikation des Gens f\u00fcr das Methyl-CpG-Bindungsprotein 2 (MECP2) verursacht wird - ein Gen, dessen Mutationen, die zu einem Funktionsverlust f\u00fchren, das Rett-Syndrom (RTT) verursachen.<\/p>\n<p>Die Pr\u00e4valenz von MeCP2-Genduplikationssyndroms wird auf 1\/150.000 der Geburten bei Jungen gesch\u00e4tzt. Die Hauptmerkmale von MeCP2-Genduplikationssyndroms sind geistige Behinderung, Entwicklungsverz\u00f6gerung, Hypotonie, epileptische Anf\u00e4lle, wiederholte Atemwegsinfektionen, Magen-Darm-Probleme, ein autistisches Spektrum und Gesichtsdysmorphie - obwohl diese Komorbidit\u00e4ten noch nicht genau genug verstanden werden. Diese \u00dcbersicht umfasst Fallstudien aus den letzten zwei Jahrzehnten seit der Entdeckung des Syndroms im Jahr 1999. Nach einer umfassenden \u00dcberpr\u00fcfung der berichteten Merkmale hat diese \u00dcbersicht Bereiche mit begrenztem Wissen identifiziert, f\u00fcr die wir eine bessere Ph\u00e4notypisierung dieses Syndroms durch eine internationale Datensammlung empfehlen. Diese Bem\u00fchungen w\u00fcrden es auch erm\u00f6glichen, die klinischen \u00dcberschneidungen zwischen MeCP2-Genduplikationssyndroms und RTT zu unterscheiden.<\/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\">Publikation ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al. (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \u00ab\u00a0Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\u00a0\u00bb die klinischen Erkenntnisse \u00fcber das Syndrom zusammen. Daniel [&hellip;]<\/p>","protected":false},"author":2,"featured_media":6887,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7367","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 Jahre klinisches Verst\u00e4ndnis - 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\/de\/20-jahre-klinisches-verstaendnis\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"20 Jahre klinisches Verst\u00e4ndnis - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Daniel Ta et al. 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