{"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\/en\/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"},"content":{"rendered":"<p><strong>Daniel Ta and i suoi collaboratori (Instituto Telethon per bambini, Australia) illustrano nel loro articolo \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" le scoperte in campo clinico legate alla sindrome.<\/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>MECP2 duplication syndrome (MDS) is a rare disease caused by duplication of the MECP2 gene (present on cromosoma X) which codes for the \"methyl-CpG-binding\" protein (MeCP2). When this same gene loses its function due to mutation, this is known as Rett sindrome (RTT).<\/p>\n<p>MDS has a prevalence of one case every 150,000 births. 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. After reviewing the characteristics reported, it identifies areas where knowledge of the disease is still scarce, and recommends a better understanding of the disease through an international data collection. This would also serve to clarify the area of clinical intersection between MDS and RTT.<\/p>\n<p><a role=\"button\" href=\"\/en\/_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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