{"id":879,"date":"2016-04-11T18:55:58","date_gmt":"2016-04-11T18:55:58","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=879"},"modified":"2016-04-11T18:55:58","modified_gmt":"2016-04-11T18:55:58","slug":"mutations-in-ltbp3-cause-acromicric-dysplasia-and-geleophysic-dysplasia","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/11\/mutations-in-ltbp3-cause-acromicric-dysplasia-and-geleophysic-dysplasia\/","title":{"rendered":"Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia"},"content":{"rendered":"<p>Acromicric dysplasia and geleophysic dysplasia are both forms of acromelic dysplasia.\u00a0 Several causative genes have been identified for the acromelic dysplasias, all of which affect TGF-\u03b2 signalling and\/or interactions with fibrillin.\u00a0 Here, we have used massive parallel sequencing to identify a dominant mutation in <em>latent TGF-\u03b2 binding protein-3<\/em> (<em>LTBP3<\/em>) in a family with acromicric dysplasia, and de novo mutations in <em>LTBP3<\/em> causing geleophysic dysplasia in two separate unrelated individuals. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum. (By Aideen McInerney-Leo, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/11\/jmedgenet-2015-103647\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/11\/jmedgenet-2015-103647<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Acromicric dysplasia and geleophysic dysplasia are both forms of acromelic dysplasia.\u00a0 Several causative genes have been identified for the acromelic dysplasias, all of which affect TGF-\u03b2 signalling and\/or interactions with fibrillin.\u00a0 Here, we have used massive parallel sequencing to identify a dominant mutation in latent TGF-\u03b2 binding protein-3 (LTBP3) in a family with acromicric dysplasia, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/11\/mutations-in-ltbp3-cause-acromicric-dysplasia-and-geleophysic-dysplasia\/\">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-879","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\/879","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=879"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/879\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=879"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=879"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=879"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}