{"id":383,"date":"2012-10-10T15:53:37","date_gmt":"2012-10-10T15:53:37","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=383"},"modified":"2012-10-10T15:53:37","modified_gmt":"2012-10-10T15:53:37","slug":"a-balanced-translocation-truncates-neurotrimin-in-a-family-with-intracranial-and-thoracic-aortic-aneurysm","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2012\/10\/10\/a-balanced-translocation-truncates-neurotrimin-in-a-family-with-intracranial-and-thoracic-aortic-aneurysm\/","title":{"rendered":"A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm"},"content":{"rendered":"<p>We have been investigating families with naturally occurring chromosomal breaks as a shortcut to localize disease genes. We present here a family with a history of cerebral hemorrhages and aortic ruptures, demonstrating that a chromosomal break truncates the Neurotrimin gene on chromosome 11 in this family. The family samples were gathered as a part of our recently launched National Registry of Reciprocal Balanced Translocations and Inversions in Finland (n=2575), and we believe that such a registry will continue to facilitate identification of risk factors for both monogenic and complex diseases. (By Teppo Varilo M.D., Ph.D., <a href=\"http:\/\/jmg.bmj.com\/content\/49\/10\/621\">http:\/\/jmg.bmj.com\/content\/49\/10\/621<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We have been investigating families with naturally occurring chromosomal breaks as a shortcut to localize disease genes. We present here a family with a history of cerebral hemorrhages and aortic ruptures, demonstrating that a chromosomal break truncates the Neurotrimin gene on chromosome 11 in this family. The family samples were gathered as a part of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2012\/10\/10\/a-balanced-translocation-truncates-neurotrimin-in-a-family-with-intracranial-and-thoracic-aortic-aneurysm\/\">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-383","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/383","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=383"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/383\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=383"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=383"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=383"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}