{"id":453,"date":"2013-01-24T19:35:36","date_gmt":"2013-01-24T19:35:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=453"},"modified":"2026-02-25T20:19:42","modified_gmt":"2026-02-25T20:19:42","slug":"mutations-in-tmem231-cause-meckel-gruber-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/","title":{"rendered":"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya)"},"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. (<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:\/\/blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/\">Read More&#8230;<\/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-453","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya) - 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\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-01-24T19:35:36+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:19:42+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya)\",\"datePublished\":\"2013-01-24T19:35:36+00:00\",\"dateModified\":\"2026-02-25T20:19:42+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/24\\\/mutations-in-tmem231-cause-meckel-gruber-syndrome\\\/\",\"name\":\"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/24\/mutations-in-tmem231-cause-meckel-gruber-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"Mutations in TMEM231 cause Meckel\u2013Gruber syndrome (Contributed by Dr. Fowzan S Alkuraya) - JMG Contact blog","og_description":"Meckel Gruber syndrome is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. 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