{"id":415,"date":"2012-11-28T16:33:42","date_gmt":"2012-11-28T16:33:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=415"},"modified":"2026-02-25T20:25:28","modified_gmt":"2026-02-25T20:25:28","slug":"eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/","title":{"rendered":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder)"},"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. (<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:\/\/blogs.bmj.com\/jmg\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/\">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-415","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder) - 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\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-11-28T16:33:42+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:25:28+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\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder)\",\"datePublished\":\"2012-11-28T16:33:42+00:00\",\"dateModified\":\"2026-02-25T20:25:28+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/\"},\"wordCount\":132,\"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\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/28\\\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\\\/\",\"name\":\"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder) - 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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":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder) - 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\/2012\/11\/28\/eftud2-haploinsufficiency-leads-to-syndromic-oesophageal-atresia\/","og_locale":"en_US","og_type":"article","og_title":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (Contributed by Muriel Holder) - JMG Contact blog","og_description":"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. 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