{"id":912,"date":"2016-08-11T00:15:41","date_gmt":"2016-08-11T00:15:41","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=912"},"modified":"2016-08-11T00:15:41","modified_gmt":"2016-08-11T00:15:41","slug":"phenotypic-spectrum-of-polr3b-mutations-isolated-hypogonadotropic-hypogonadism-without-neurological-or-dental-anomalies","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/08\/11\/phenotypic-spectrum-of-polr3b-mutations-isolated-hypogonadotropic-hypogonadism-without-neurological-or-dental-anomalies\/","title":{"rendered":"Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies"},"content":{"rendered":"<p><span style=\"font-family: 'Arial',sans-serif\"><span style=\"color: #000000\">The gene <\/span><i><span style=\"color: #000000\">POLR3B<\/span><\/i><span style=\"color: #000000\"> is associated with 4H leukodystrophy, a syndrome that includes reproductive failure (in the form of idiopathic hypogonadotropic hypogonadism (IHH)), neurologic disease (often in the form of ataxia), and hypodontia. To date, most patients reported to carry biallelic variants in <\/span><i><span style=\"color: #000000\">POLR3B<\/span><\/i><span style=\"color: #000000\"> begin to show neurologic symptoms in early childhood, often before they are 3 years old. In our cohort of 565 patients with IHH, we identified four individuals with two variants in <\/span><i><span style=\"color: #000000\">POLR3B<\/span><\/i><span style=\"color: #000000\">; however, these patients were not found to have any signs of neurodegeneration or ataxia when evaluated in their early 30s. Our finding broadens the understanding of the spectrum of reproductive and neurologic disorders associated with <\/span><i><span style=\"color: #000000\">POLR3B<\/span><\/i><span style=\"color: #000000\"> mutations. (By Mary Richards, <\/span><a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/08\/10\/jmedgenet-2016-104064\"><span style=\"color: #0563c1\">http:\/\/jmg.bmj.com\/content\/early\/2016\/08\/10\/jmedgenet-2016-104064<\/span><\/a><span style=\"color: #000000\"> )<\/span><\/span><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The gene POLR3B is associated with 4H leukodystrophy, a syndrome that includes reproductive failure (in the form of idiopathic hypogonadotropic hypogonadism (IHH)), neurologic disease (often in the form of ataxia), and hypodontia. To date, most patients reported to carry biallelic variants in POLR3B begin to show neurologic symptoms in early childhood, often before they are [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/08\/11\/phenotypic-spectrum-of-polr3b-mutations-isolated-hypogonadotropic-hypogonadism-without-neurological-or-dental-anomalies\/\">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-912","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\/912","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=912"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/912\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=912"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=912"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=912"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}