{"id":849,"date":"2016-01-06T19:34:34","date_gmt":"2016-01-06T19:34:34","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=849"},"modified":"2016-01-06T19:34:34","modified_gmt":"2016-01-06T19:34:34","slug":"identification-of-novel-genetic-causes-of-rett-syndrome-like-phenotypes","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/06\/identification-of-novel-genetic-causes-of-rett-syndrome-like-phenotypes\/","title":{"rendered":"Identification of novel genetic causes of Rett syndrome-like phenotypes"},"content":{"rendered":"<p>Rett syndrome (RTT) is a severe neurodevelopmental disorder. We investigated a group of 19 <em>MECP2<\/em> and <em>CDKL5<\/em> negative RTT-like patients. Pathogenic genomic imbalances were found in two patients: a 18q21.2 deletion encompassing <em>TCF4<\/em> and a mosaic uniparental disomy of chromosome 3. Very likely pathogenic sequence variants were identified through exome sequencing in genes previously implicated in neurodevelopmental disorders (<em>EEF1A2<\/em>, <em>STXBP1<\/em>, <em>ZNF238,<\/em> <em>SLC35A2<\/em>, <em>ZFX,<\/em> <em>SHROOM4 <\/em>and <em>E<\/em><em>IF2B2<\/em>) as well as in novel candidate genes (<em>RHOBTB2<\/em>, <em>SMARCA1,<\/em> <em>GABBR2<\/em>, <em>EIF4G1<\/em> and <em>HTT),<\/em> potentially explaining disease in 68% of the cases. Bioinformatics analysis shows significant interaction between the novel and previously known RTT-causative genes. (By F\u00e1tima Lopes, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/06\/jmedgenet-2015-103568\">http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/06\/jmedgenet-2015-103568<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/Lopes-F-Barbosa-M-et-al_2015_Figure-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-850\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/Lopes-F-Barbosa-M-et-al_2015_Figure-1-300x225.jpg\" alt=\"Lopes F Barbosa M et al_2015_Figure 1\" width=\"300\" height=\"225\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/Lopes-F-Barbosa-M-et-al_2015_Figure-1-300x225.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/Lopes-F-Barbosa-M-et-al_2015_Figure-1.jpg 960w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rett syndrome (RTT) is a severe neurodevelopmental disorder. We investigated a group of 19 MECP2 and CDKL5 negative RTT-like patients. Pathogenic genomic imbalances were found in two patients: a 18q21.2 deletion encompassing TCF4 and a mosaic uniparental disomy of chromosome 3. Very likely pathogenic sequence variants were identified through exome sequencing in genes previously implicated [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/06\/identification-of-novel-genetic-causes-of-rett-syndrome-like-phenotypes\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-849","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/849","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=849"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/849\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=849"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=849"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=849"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}