{"id":468,"date":"2013-02-19T19:36:33","date_gmt":"2013-02-19T19:36:33","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=468"},"modified":"2013-02-27T13:48:32","modified_gmt":"2013-02-27T13:48:32","slug":"exome-sequencing-identifies-mutations-in-the-gene-ttc7a-in-french-canadian-cases-with-hereditary-multiple-intestinal-atresia","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/02\/19\/exome-sequencing-identifies-mutations-in-the-gene-ttc7a-in-french-canadian-cases-with-hereditary-multiple-intestinal-atresia\/","title":{"rendered":"Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia"},"content":{"rendered":"<p>Congenital multiple intestinal atresia is a fatal disorder affecting newborn infants, with the occurrence of numerous obstructions in the small and large intestines, sometimes associated with severe immune deficiency. A genetic origin for the disease was suspected but until now no specific gene had been identified. By performing genome-wide sequencing of DNA from five affected children we found mutations in the gene TTC7A that are likely to cause the disease.\u00a0 Previously little was known about this gene: now, by further studying the gene\u2019s function we hope to gain a deeper understanding of the biology of this devastating disease. (By Dr. Bruno Maranda, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/02\/18\/jmedgenet-2012-101483\">http:\/\/jmg.bmj.com\/content\/early\/2013\/02\/18\/jmedgenet-2012-101483<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Congenital multiple intestinal atresia is a fatal disorder affecting newborn infants, with the occurrence of numerous obstructions in the small and large intestines, sometimes associated with severe immune deficiency. A genetic origin for the disease was suspected but until now no specific gene had been identified. By performing genome-wide sequencing of DNA from five affected [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/02\/19\/exome-sequencing-identifies-mutations-in-the-gene-ttc7a-in-french-canadian-cases-with-hereditary-multiple-intestinal-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-468","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\/468","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=468"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/468\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=468"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=468"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=468"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}