{"id":826,"date":"2015-11-14T01:54:43","date_gmt":"2015-11-14T01:54:43","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=826"},"modified":"2015-11-14T01:54:43","modified_gmt":"2015-11-14T01:54:43","slug":"homozygous-missense-mutation-in-the-lman2l-gene-segregates-with-intellectual-disability-in-a-large-consanguineous-pakistani-family","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2015\/11\/14\/homozygous-missense-mutation-in-the-lman2l-gene-segregates-with-intellectual-disability-in-a-large-consanguineous-pakistani-family\/","title":{"rendered":"Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family"},"content":{"rendered":"<p>We investigated a large consanguineous family from Pakistan comprising multiple affected individuals with intellectual disability and epilepsy. Using a combination of next-generation and classical sequencing methods, we identified a bi-allelic missense mutation p.R53Q in the <em>LMAN2L<\/em> gene only in the patients and not in the unaffected family members. <em>LMAN2L<\/em> encodes for a protein playing a central role in quality control processes of protein glycosylation. This is the first report linking <em>LMAN2L<\/em> to the phenotype of severe intellectual disability and seizures. (<em>By Rafiullah Rafiullah &amp; Dr. Simone Berkel<\/em>, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/11\/13\/jmedgenet-2015-103179\">http:\/\/jmg.bmj.com\/content\/early\/2015\/11\/13\/jmedgenet-2015-103179<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We investigated a large consanguineous family from Pakistan comprising multiple affected individuals with intellectual disability and epilepsy. Using a combination of next-generation and classical sequencing methods, we identified a bi-allelic missense mutation p.R53Q in the LMAN2L gene only in the patients and not in the unaffected family members. LMAN2L encodes for a protein playing a [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2015\/11\/14\/homozygous-missense-mutation-in-the-lman2l-gene-segregates-with-intellectual-disability-in-a-large-consanguineous-pakistani-family\/\">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-826","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\/826","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=826"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/826\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=826"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=826"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=826"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}