{"id":341,"date":"2012-07-11T23:49:14","date_gmt":"2012-07-11T23:49:14","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=341"},"modified":"2012-07-11T23:49:14","modified_gmt":"2012-07-11T23:49:14","slug":"identification-of-the-first-recurrent-par1-deletion-in-leri-weill-dyschondrosteosis-and-idiopathic-short-stature-reveals-the-presence-of-a-novel-shox-enhancer","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/07\/11\/identification-of-the-first-recurrent-par1-deletion-in-leri-weill-dyschondrosteosis-and-idiopathic-short-stature-reveals-the-presence-of-a-novel-shox-enhancer\/","title":{"rendered":"Identification of the first recurrent PAR1 deletion in L\u00e9ri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer"},"content":{"rendered":"<p><em>SHOX, <\/em>is a gene implicated in human growth.\u00a0 Defects in <em>SHOX,<\/em> or its regulatory regions have been observed in ~60% of L\u00e9ri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia, and in 2-5% of idiopathic short stature (ISS) patients. \u00a0In this study, we identified the first recurrent deletion within the <em>SHOX <\/em>regulatory<em> <\/em>region in these disorders, 19\/124 LWD and 11\/576 ISS. Using chicken and human cell models to examine the deleted sequence, we subsequently identified a novel regulatory element that activates <em>SHOX<\/em> expression. In the individuals with the deletion, the level of SHOX activity is hence reduced, thus, resulting in the clinical features exhibited in these patients. (By Karen Heath, PhD, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/7\/442\">http:\/\/jmg.bmj.com\/content\/49\/7\/442<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>SHOX, is a gene implicated in human growth.\u00a0 Defects in SHOX, or its regulatory regions have been observed in ~60% of L\u00e9ri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia, and in 2-5% of idiopathic short stature (ISS) patients. \u00a0In this study, we identified the first recurrent deletion within the SHOX regulatory region in these disorders, 19\/124 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/07\/11\/identification-of-the-first-recurrent-par1-deletion-in-leri-weill-dyschondrosteosis-and-idiopathic-short-stature-reveals-the-presence-of-a-novel-shox-enhancer\/\">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-341","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\/341","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=341"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/341\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=341"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=341"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=341"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}