{"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-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica\/","title":{"rendered":"Una breve storia della Sindrome da Duplicazione di MECP2: 20 anni di comprensione clinica (Eine kurze Geschichte des MECP2-Duplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis)"},"content":{"rendered":"<p><strong>Daniel Ta e i suoi collaboratori (Instituto Telethon per bambini, Australia) illustriert in seinem Artikel \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" (Die kurze Geschichte des MECP2 Gene Duplication Syndroms: 20 Jahre klinisches Verst\u00e4ndnis) die klinischen Probleme, die mit dem Syndrom einhergehen.<\/strong><\/p>\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<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n<p>RIASSUNTO DELL'ARTICOLO:<\/p>\n<p>La Sindrome da Duplicazione di MECP2 (MDS) e' una malattia rara causata dalla duplicazione del gene MECP2 (presente sul cromosoma X) che codifica per la proteina \"methyl-CpG-binding\" (MeCP2). Wenn quo questo stesso gene perde la sua funzionalita' a causa di una mutazione si ha invece la sindrome di Rett (RTT).<\/p>\n<p>MDS hat eine Pr\u00e4valenz von einem Fall pro 150.000 Geburten. Gli aspetti chiave della MDS includono disabilita' intellettiva, ritardo nello sviluppo, ipotonia, convulsioni, frequenti infezioni respiratorie, tratti comportamentali autistici e dismorfia, sebbene queste comorbidita' non siano ancora pienamente comprese. Questo articolo copre due decenni di casi studio di MDS a partire dalla sua scoperta nel 1999. Dopo aver passato in rassegna le caratteristiche riportate, si identificano le aree dove la conoscenza della malattia rimane scarsa per le quali si raccomanda una migliore caratterizzazione fenotipica tramite una raccolta di dati internazionale. Questo servirebbe anche a chiarire l'area di intersezione clinica tra MDS e RTT.<\/p>\n<p><a role=\"button\" href=\"\/de\/_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\">Alla pubblicazione<\/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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