{"id":928,"date":"2016-09-21T18:37:48","date_gmt":"2016-09-21T18:37:48","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=928"},"modified":"2016-09-21T18:37:48","modified_gmt":"2016-09-21T18:37:48","slug":"cep78-is-mutated-in-a-distinct-type-of-usher-syndrome-2","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/09\/21\/cep78-is-mutated-in-a-distinct-type-of-usher-syndrome-2\/","title":{"rendered":"CEP78 is mutated in a distinct type of Usher syndrome"},"content":{"rendered":"<p>Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss. \u00a0Currently, the genetic basis remains unknown in 20-30% of patients. \u00a0In this article, we described the identification of <em>CEP78<\/em> as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss when mutated.\u00a0 Our results add additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. (By Dr. Rui Chen, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/09\/21\/jmedgenet-2016-104166\">http:\/\/jmg.bmj.com\/content\/early\/2016\/09\/21\/jmedgenet-2016-104166<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss. \u00a0Currently, the genetic basis remains unknown in 20-30% of patients. \u00a0In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/09\/21\/cep78-is-mutated-in-a-distinct-type-of-usher-syndrome-2\/\">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-928","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\/928","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=928"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/928\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=928"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=928"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=928"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}