{"id":525,"date":"2013-04-26T03:23:00","date_gmt":"2013-04-26T03:23:00","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=525"},"modified":"2013-04-26T03:23:00","modified_gmt":"2013-04-26T03:23:00","slug":"mutation-in-adat3-encoding-adenosine-deaminase-acting-on-transfer-rna-causes-intellectual-disability-and-strabismus","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/04\/26\/mutation-in-adat3-encoding-adenosine-deaminase-acting-on-transfer-rna-causes-intellectual-disability-and-strabismus\/","title":{"rendered":"Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus"},"content":{"rendered":"<p>Intellectual disability (ID) is one of the most common disabilities worldwide, affecting nearly 2% of the global population. Here we examined patients from eight families suffering from a form of ID that is coupled with squint of the eye, and in each case found the same DNA mutation, in a gene called ADAT3. This gene is part of a sub-machinery vital for correctly converting DNA into protein within the cell, and excitingly this is the first time that a human mutation has been uncovered in this particular sub-machinery. Although mutations in a large number of genes lead to general ID, focusing on ID that contains a second defining feature (in this case, squint) appears to result in more focused genetic findings. (By Dr. Fowzan S Alkuraya, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/04\/24\/jmedgenet-2012-101378\">http:\/\/jmg.bmj.com\/content\/early\/2013\/04\/24\/jmedgenet-2012-101378<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Intellectual disability (ID) is one of the most common disabilities worldwide, affecting nearly 2% of the global population. Here we examined patients from eight families suffering from a form of ID that is coupled with squint of the eye, and in each case found the same DNA mutation, in a gene called ADAT3. This gene [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/04\/26\/mutation-in-adat3-encoding-adenosine-deaminase-acting-on-transfer-rna-causes-intellectual-disability-and-strabismus\/\">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-525","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\/525","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=525"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/525\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=525"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=525"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=525"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}