{"id":686,"date":"2014-10-08T00:44:13","date_gmt":"2014-10-08T00:44:13","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=686"},"modified":"2014-10-08T00:44:13","modified_gmt":"2014-10-08T00:44:13","slug":"otx2-mutations-cause-autosomal-dominant-pattern-dystrophy-of-the-retinal-pigment-epithelium","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/10\/08\/otx2-mutations-cause-autosomal-dominant-pattern-dystrophy-of-the-retinal-pigment-epithelium\/","title":{"rendered":"OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium"},"content":{"rendered":"<p>Pattern dystrophy (PD) of the retinal pigment epithelium is a slowly progressive genetically heterogeneous autosomal dominant disorder. As the name suggests, the disease manifests as changes in the retina that display a certain \u2018pattern\u2019. We performed genetic analyses in two families with PD; different approaches that included linkage analysis and whole exome sequencing were used. We identified a novel missense variant (E79K) in <em>OTX2<\/em> gene to underlie PD in both families. <em>OTX2<\/em> has been previously associated with developmental eye and pituitary anomalies in humans. Our work is the first to associate <em>OTX2<\/em> to cause PD and shows that mutations <em>OTX2<\/em> can also lead to progressive retinal diseases. (By Dr. Ajoy Vincent, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/07\/jmedgenet-2014-102620\">http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/07\/jmedgenet-2014-102620<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pattern dystrophy (PD) of the retinal pigment epithelium is a slowly progressive genetically heterogeneous autosomal dominant disorder. As the name suggests, the disease manifests as changes in the retina that display a certain \u2018pattern\u2019. We performed genetic analyses in two families with PD; different approaches that included linkage analysis and whole exome sequencing were used. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/10\/08\/otx2-mutations-cause-autosomal-dominant-pattern-dystrophy-of-the-retinal-pigment-epithelium\/\">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-686","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\/686","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=686"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/686\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=686"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=686"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=686"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}