{"id":944,"date":"2016-11-03T18:49:07","date_gmt":"2016-11-03T18:49:07","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=944"},"modified":"2016-11-03T18:49:07","modified_gmt":"2016-11-03T18:49:07","slug":"ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/03\/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis\/","title":{"rendered":"AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis"},"content":{"rendered":"<p>Several authors have previously described a syndrome consisting of Alport Syndrome, intellectual disability, midface hypoplasia and elliptocytosis due to a large deletion involving the X chromosome. Previously published cases all had deletions of the X chromosome involving between 6 and 11 genes. We describe two maternal half-brothers who have very similar extra-renal features including midface hypoplasia, intellectual disability and elliptocytosis due to a single base-pair substitution in <em>AMMECR1, <\/em>a gene within the region of the X chromosome deleted in the previously described cases. Functional studies confirmed that the mutant protein is abnormally distributed within the nucleus of cultured cells. (By Dr. Rodney Gilbert, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/03\/jmedgenet-2016-104100\">http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/03\/jmedgenet-2016-104100<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Several authors have previously described a syndrome consisting of Alport Syndrome, intellectual disability, midface hypoplasia and elliptocytosis due to a large deletion involving the X chromosome. Previously published cases all had deletions of the X chromosome involving between 6 and 11 genes. We describe two maternal half-brothers who have very similar extra-renal features including midface [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/03\/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis\/\">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-944","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\/944","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=944"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/944\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=944"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=944"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=944"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}