{"id":883,"date":"2016-04-18T18:28:18","date_gmt":"2016-04-18T18:28:18","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=883"},"modified":"2016-04-18T18:28:18","modified_gmt":"2016-04-18T18:28:18","slug":"a-recurrent-mitochondrial-p-trp22arg-ndufb3-variant-causes-a-distinctive-facial-appearance-short-stature-and-a-mild-biochemical-and-clinical-phenotype","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/18\/a-recurrent-mitochondrial-p-trp22arg-ndufb3-variant-causes-a-distinctive-facial-appearance-short-stature-and-a-mild-biochemical-and-clinical-phenotype\/","title":{"rendered":"A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype"},"content":{"rendered":"<p>Mitochondrial diseases occur when insufficient energy is produced, affect both adults and children and often require a muscle biopsy to help the investigation and diagnosis. We have identified the same genetic defect \u2013 a mutation within the <em>NDUFB3<\/em> gene &#8211; in ten children from eight families with identical physical features; affected children are short, have prominent foreheads and were noted to be developing slowly during pregnancy. These children have recovered well whereas many other mitochondrial genetic defects have a fatal outcome. Early recognition of this combination of physical features could lead to other children being diagnosed without requiring an invasive muscle biopsy. (By Dr. Charlotte Alston, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/18\/jmedgenet-2015-103576\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/18\/jmedgenet-2015-103576<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mitochondrial diseases occur when insufficient energy is produced, affect both adults and children and often require a muscle biopsy to help the investigation and diagnosis. We have identified the same genetic defect \u2013 a mutation within the NDUFB3 gene &#8211; in ten children from eight families with identical physical features; affected children are short, have [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/04\/18\/a-recurrent-mitochondrial-p-trp22arg-ndufb3-variant-causes-a-distinctive-facial-appearance-short-stature-and-a-mild-biochemical-and-clinical-phenotype\/\">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-883","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\/883","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=883"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/883\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=883"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=883"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=883"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}