{"id":894,"date":"2016-05-31T18:18:46","date_gmt":"2016-05-31T18:18:46","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=894"},"modified":"2016-05-31T18:18:46","modified_gmt":"2016-05-31T18:18:46","slug":"a-splicing-mutation-in-vps4b-causes-dentin-dysplasia-i","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/05\/31\/a-splicing-mutation-in-vps4b-causes-dentin-dysplasia-i\/","title":{"rendered":"A Splicing Mutation in VPS4B Causes Dentin Dysplasia I"},"content":{"rendered":"<p>Dentin dysplasia I (DDI) is an autosomal dominant disorder characterized by rootless teeth with abnormal pulpal morphology. The etiology of DDI still remains largely unclear. Here, we identified <em>VPS4B<\/em> as a disease-causing gene for DDI by\u00a0<em>linkage analysis<\/em>\u00a0followed by deep sequencing of the candidate genes in a large Chinese family with DDI. A splicing mutation (IVS7+46C&gt;G) in <em>VPS4B<\/em> gene was found, which resulted in the aberrant transcripts with a 15-amino acid insertion and loss of function. We showed that <em>VPS4B<\/em> was identified to be linked to Wnt\/beta-catenin signaling and other genes involved in odontogenesis by a functional study. (By Prof. Fu Xiong, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/05\/31\/jmedgenet-2015-103619\">http:\/\/jmg.bmj.com\/content\/early\/2016\/05\/31\/jmedgenet-2015-103619<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dentin dysplasia I (DDI) is an autosomal dominant disorder characterized by rootless teeth with abnormal pulpal morphology. The etiology of DDI still remains largely unclear. Here, we identified VPS4B as a disease-causing gene for DDI by\u00a0linkage analysis\u00a0followed by deep sequencing of the candidate genes in a large Chinese family with DDI. A splicing mutation (IVS7+46C&gt;G) [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/05\/31\/a-splicing-mutation-in-vps4b-causes-dentin-dysplasia-i\/\">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-894","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\/894","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=894"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/894\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=894"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=894"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=894"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}