{"id":842,"date":"2016-01-05T02:37:09","date_gmt":"2016-01-05T02:37:09","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=842"},"modified":"2016-01-05T02:37:09","modified_gmt":"2016-01-05T02:37:09","slug":"deletions-of-5%e2%80%b2-hoxc-genes-are-associated-with-lower-extremity-malformations-including-clubfoot-and-vertical-talus","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/05\/deletions-of-5%e2%80%b2-hoxc-genes-are-associated-with-lower-extremity-malformations-including-clubfoot-and-vertical-talus\/","title":{"rendered":"Deletions of 5\u2032 HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus"},"content":{"rendered":"<p>Deletions of the HoxC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Here, we report chromosome 12q13.13 microdeletions ranging from 13-175 kb and involving the 5\u2019 HOXC genes in four families segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia. We identified reduced HOXC gene expression in fibroblast cells from a patient with a 5\u2019 HOXC deletion and reduced expression of the closely related HOXD genes which have previously been implicated in congenital vertical talus, suggesting HOXC regulation of the HOXD cluster may contribute to lower limb phenotypes. (By Dr. Christina A Gurnett, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/04\/jmedgenet-2015-103505\">http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/04\/jmedgenet-2015-103505<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/DSC_0272.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-843\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/DSC_0272-300x199.jpg\" alt=\"DSC_0272\" width=\"300\" height=\"199\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/DSC_0272-300x199.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/01\/DSC_0272-1024x678.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Deletions of the HoxC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Here, we report chromosome 12q13.13 microdeletions ranging from 13-175 kb and involving the 5\u2019 HOXC genes in four families segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia. We identified reduced HOXC gene [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/05\/deletions-of-5%e2%80%b2-hoxc-genes-are-associated-with-lower-extremity-malformations-including-clubfoot-and-vertical-talus\/\">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-842","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\/842","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=842"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/842\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=842"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=842"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=842"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}