{"id":453,"date":"2013-01-24T19:35:36","date_gmt":"2013-01-24T19:35:36","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=453"},"modified":"2013-02-27T13:48:33","modified_gmt":"2013-02-27T13:48:33","slug":"mutations-in-tmem231-cause-meckel-gruber-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/","title":{"rendered":"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome"},"content":{"rendered":"<p>Meckel Gruber syndrome is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. It is caused by recessive mutations in a number of genes.\u00a0 In this study, we have identified two consanguineous families with Meckel Gruber syndrome and uncovered a novel recessive mutation in <i>TMEM231<\/i> in each of them.\u00a0 <i>TMEM231<\/i> has been implicated recently in the pathogenesis of Joubert Syndrome. Our findings expand the understanding of the overlap in the molecular pathogenesis between Meckel Gruber and Joubert syndromes. They will also increase the percentage of families with Meckel Gruber Syndrome who can learn the cause of their illness at the gene level. (By Dr. Fowzan S Alkuraya, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/23\/jmedgenet-2012-101431\">http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/23\/jmedgenet-2012-101431<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Meckel Gruber syndrome is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. It is caused by recessive mutations in a number of genes.\u00a0 In this study, we have identified two consanguineous families with Meckel Gruber syndrome and uncovered a novel recessive mutation in TMEM231 in each of them.\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/\">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-453","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\/453","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=453"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/453\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=453"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=453"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=453"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}