{"id":616,"date":"2014-01-07T19:36:18","date_gmt":"2014-01-07T19:36:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=616"},"modified":"2026-02-25T19:53:09","modified_gmt":"2026-02-25T19:53:09","slug":"methyl-cpg-binding-protein-2-mecp2-mutation-type-is-associated-with-disease-severity-in-rett-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/07\/methyl-cpg-binding-protein-2-mecp2-mutation-type-is-associated-with-disease-severity-in-rett-syndrome\/","title":{"rendered":"Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome (Contributed by Dr. Michelle Olsen)"},"content":{"rendered":"

Using the largest patient cohort studied (1052 patients) with Rett syndrome (RTT), we investigated whether individual mutations give rise to the observed phenotypic variability.\u00a0 We identified groups of point mutations, deletions and insertions that were particularly severe in both typical and atypical RTT, as well as groups of mutations were less severe.\u00a0 Our data suggest that for most mutations types, clinical severity progresses with age.\u00a0 We found that ambulation, hand use, and age of onset of stereotypies are associated with overall disease severity.\u00a0 We hope these findings will be a valuable resource to the RTT community. (http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/07\/jmedgenet-2013-102113<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Using the largest patient cohort studied (1052 patients) with Rett syndrome (RTT), we investigated whether individual mutations give rise to the observed phenotypic variability.\u00a0 We identified groups of point mutations, deletions and insertions that were particularly severe in both typical and atypical RTT, as well as groups of mutations were less severe.\u00a0 Our data suggest […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-616","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMethyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome (Contributed by Dr. Michelle Olsen) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2014\/01\/07\/methyl-cpg-binding-protein-2-mecp2-mutation-type-is-associated-with-disease-severity-in-rett-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome (Contributed by Dr. Michelle Olsen) - 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