{"id":386,"date":"2012-10-10T15:55:25","date_gmt":"2012-10-10T15:55:25","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=386"},"modified":"2026-02-25T20:29:28","modified_gmt":"2026-02-25T20:29:28","slug":"study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/10\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\/","title":{"rendered":"Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation (Contributed by Dr Fowzan S Alkuraya)"},"content":{"rendered":"

Osteogenesis imperfecta or brittle bone disease is usually caused by mutations in one copy (dominant) or two copies (recessive) of a number of genes.\u00a0 In order to search for additional disease genes, we enrolled 13 consanguineous families with brittle bone disease and found that three of them map to a novel genetic region which we show harbors a mutation in TMEM38B, known for its function in regulating intracellular calcium level, which we propose to be a novel disease gene.\u00a0 This finding will expand our understanding of bone development and increase the percentage of families with this disease who can learn the cause of their illness at the gene level. (http:\/\/jmg.bmj.com\/content\/49\/10\/630<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Osteogenesis imperfecta or brittle bone disease is usually caused by mutations in one copy (dominant) or two copies (recessive) of a number of genes.\u00a0 In order to search for additional disease genes, we enrolled 13 consanguineous families with brittle bone disease and found that three of them map to a novel genetic region which we […]<\/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-386","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nStudy of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation (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\/2012\/10\/10\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation (Contributed by Dr Fowzan S Alkuraya) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Osteogenesis imperfecta or brittle bone disease is usually caused by mutations in one copy (dominant) or two copies (recessive) of a number of genes.\u00a0 In order to search for additional disease genes, we enrolled 13 consanguineous families with brittle bone disease and found that three of them map to a novel genetic region which we [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/10\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-10-10T15:55:25+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:29:28+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\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation (Contributed by Dr Fowzan S Alkuraya)\",\"datePublished\":\"2012-10-10T15:55:25+00:00\",\"dateModified\":\"2026-02-25T20:29:28+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/study-of-autosomal-recessive-osteogenesis-imperfecta-in-arabia-reveals-a-novel-locus-defined-by-tmem38b-mutation\\\/\",\"name\":\"Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation (Contributed by Dr Fowzan S Alkuraya) - 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