{"id":521,"date":"2013-04-16T19:05:51","date_gmt":"2013-04-16T19:05:51","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=521"},"modified":"2013-04-16T19:05:51","modified_gmt":"2013-04-16T19:05:51","slug":"a-new-gene-for-childhood-onset-pulmonary-arterial-hypertension","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/04\/16\/a-new-gene-for-childhood-onset-pulmonary-arterial-hypertension\/","title":{"rendered":"A new gene for childhood-onset pulmonary arterial hypertension"},"content":{"rendered":"<p>Pulmonary arterial hypertension (PAH) in children is a progressive and often fatal disease of the lung vessels, for which no curative therapy exists. PAH may be heritable: mutations in the BMPR2-gene have been found in about 15% of children with the disease. In a national cohort of Dutch children with unexplained PAH, we identified mutations of the TBX4-gene in 30% of the cases. TBX4-mutations have previously been shown to cause Small Patella Syndrome (SPS) and, interestingly, the pediatric PAH-patients with TBX4 mutations, also appeared to have SPS. This is the first time that TBX4-mutations are reported in PAH.\u00a0(By Dr. Wilhelmina S Kerstjens-Frederikse, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/04\/15\/jmedgenet-2012-101152\">http:\/\/jmg.bmj.com\/content\/early\/2013\/04\/15\/jmedgenet-2012-101152<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pulmonary arterial hypertension (PAH) in children is a progressive and often fatal disease of the lung vessels, for which no curative therapy exists. PAH may be heritable: mutations in the BMPR2-gene have been found in about 15% of children with the disease. In a national cohort of Dutch children with unexplained PAH, we identified mutations [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/04\/16\/a-new-gene-for-childhood-onset-pulmonary-arterial-hypertension\/\">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-521","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\/521","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=521"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/521\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=521"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=521"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=521"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}