{"id":973,"date":"2017-01-31T20:50:07","date_gmt":"2017-01-31T20:50:07","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=973"},"modified":"2017-02-15T15:43:30","modified_gmt":"2017-02-15T15:43:30","slug":"a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/01\/31\/a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family\/","title":{"rendered":"A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi Family"},"content":{"rendered":"<p>Here, we report five members affected with severe intellectual disability, developmental delays, seizures, and self-mutilation in a large consanguineous family from Saudi Arabia. Clinical whole-exome sequencing in the proband revealed a pathogenic variant in the CRBN gene, which segregated in the family. CRBN protein is known to play a role in memory and learning by regulating the assembly and expression of large-conductance, calcium-activated potassium channels involved in severe neurological disorders. Our study expands the role of CRBN in severe intellectual disability, with an additional feature of self-mutilation reflecting the heterogeneity in the clinical features exhibited by the patients with CRBN mutations. Studies are ongoing to understand the function of the CRBN variant.<\/p>\n<p>(By Atia Sheereen, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/01\/30\/jmedgenet-2016-104117\">http:\/\/jmg.bmj.com\/content\/early\/2017\/01\/30\/jmedgenet-2016-104117<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Here, we report five members affected with severe intellectual disability, developmental delays, seizures, and self-mutilation in a large consanguineous family from Saudi Arabia. Clinical whole-exome sequencing in the proband revealed a pathogenic variant in the CRBN gene, which segregated in the family. CRBN protein is known to play a role in memory and learning by [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/01\/31\/a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family\/\">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-973","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\/973","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=973"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/973\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=973"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=973"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=973"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}