{"id":415,"date":"2012-11-28T16:33:42","date_gmt":"2012-11-28T16:33:42","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=415"},"modified":"2013-02-27T13:48:33","modified_gmt":"2013-02-27T13:48:33","slug":"eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/","title":{"rendered":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia"},"content":{"rendered":"<p>Esophageal atresia (EA) and mandibulofacial dysostosis (MFD) are two congenital malformations which can be part of syndromic conditions, for which several genes have recently been identified. In particular, changes within the <em>EFTUD2<\/em> gene, located on the long arm of chromosome 17, have been found in patients presenting with MFD and microcephaly. Until now, no syndrome associating both MFD and EA has been clearly delineated.<\/p>\n<p>We report on 10 cases presenting with MFD, 8 of whom also had EA, either due to <em>de novo<\/em> 17q21.31 deletions encompassing <em>EFTUD2 <\/em>or<em> de novo<\/em> heterozygous <em>EFTUD2<\/em> mutations. These data broaden the spectrum of clinical features ascribed to <em>EFTUD2<\/em> changes, define a novel syndromic EA entity and suggest a wide range of differential diagnoses. (By Muriel Holder, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/12\/737\">http:\/\/jmg.bmj.com\/content\/49\/12\/737<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Esophageal atresia (EA) and mandibulofacial dysostosis (MFD) are two congenital malformations which can be part of syndromic conditions, for which several genes have recently been identified. In particular, changes within the EFTUD2 gene, located on the long arm of chromosome 17, have been found in patients presenting with MFD and microcephaly. Until now, no syndrome [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/\">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-415","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\/415","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=415"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/415\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=415"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=415"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=415"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}