{"id":875,"date":"2016-04-07T18:20:48","date_gmt":"2016-04-07T18:20:48","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=875"},"modified":"2016-04-07T18:20:48","modified_gmt":"2016-04-07T18:20:48","slug":"germline-rras2-mutations-are-not-associated-with-noonan-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/07\/germline-rras2-mutations-are-not-associated-with-noonan-syndrome\/","title":{"rendered":"Germline RRAS2 Mutations are not associated with Noonan Syndrome"},"content":{"rendered":"<p>Mutations in a variety of Ras-MAPK pathway genes are detected in 70-80% of patients with Noonan Syndrome (NS) and related disorders, collectively referred to as RASopathies. Certain patients with RASopathies are predisposed to developing juvenile myelomonocytic leukemia (JMML), a myeloproliferative disorder of early childhood. We recently identified somatic mutations in <em>RRAS2<\/em> in JMML and hypothesized that germline <em>RRAS2<\/em> mutations could be an additional cause of NS. We therefore screened a cohort of 116 NS patients for mutations in <em>RRAS2<\/em> that had no identified lesions. No recurrent mutations were found, ruling out germline mutations in <em>RRAS2<\/em> as a cause of Noonan syndrome. (By Dr. Elliot Stieglitz, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/07\/jmedgenet-2016-103889\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/07\/jmedgenet-2016-103889<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in a variety of Ras-MAPK pathway genes are detected in 70-80% of patients with Noonan Syndrome (NS) and related disorders, collectively referred to as RASopathies. Certain patients with RASopathies are predisposed to developing juvenile myelomonocytic leukemia (JMML), a myeloproliferative disorder of early childhood. We recently identified somatic mutations in RRAS2 in JMML and hypothesized [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/07\/germline-rras2-mutations-are-not-associated-with-noonan-syndrome\/\">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-875","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\/875","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=875"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/875\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=875"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=875"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=875"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}