{"id":458,"date":"2013-01-25T19:52:06","date_gmt":"2013-01-25T19:52:06","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=458"},"modified":"2013-02-27T13:48:33","modified_gmt":"2013-02-27T13:48:33","slug":"mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","title":{"rendered":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism"},"content":{"rendered":"<p>Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in <i>POLR3A<\/i> and <i>POLR3B <\/i>genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are now referred as Pol III-related leukodystrophies. The objective of this study was to determine the frequency of <i>POLR3A<\/i> and <i>POLR3B<\/i> mutations in patients with typical clinical and\/or radiologic features of Pol III-related leukodystrophies. To do so, we sequenced the <i>POLR3A<\/i> and\/or <i>POLR3B<\/i> genes in fourteen patients and found mutations in all fourteen patients, including eight novel mutations in <i>POLR3A<\/i> and seven novel mutations in <i>POLR3B<\/i>. To date, our group has described 37 patients, of whom 27 have mutations in <i>POLR3A<\/i> and 10 in <i>POLR3B, <\/i>respectively. Altogether, our results further support that <i>POLR3A<\/i> and <i>POLR3B<\/i> mutations are a major cause of hypomyelinating leukodystrophies and suggest that <i>POLR3A<\/i> mutations are more frequent. (By Dr. Genevi\u00e8ve Bernard, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/24\/jmedgenet-2012-101357\">http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/24\/jmedgenet-2012-101357<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in POLR3A and POLR3B genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/\">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-458","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\/458","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=458"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/458\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=458"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=458"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=458"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}