{"id":797,"date":"2015-08-21T18:51:31","date_gmt":"2015-08-21T18:51:31","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=797"},"modified":"2015-08-21T18:51:31","modified_gmt":"2015-08-21T18:51:31","slug":"joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic-heterogeneity","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/08\/21\/joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic-heterogeneity\/","title":{"rendered":"Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity"},"content":{"rendered":"<p>Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances, and distinctive brain MRI findings. Diagnosis and treatment of JS is challenging due to &gt;28 associated genes and substantial clinical variability. This study provides a relatively unbiased view of the phenotypic range, genetic basis, and gene-phenotype associations in &gt;500 individuals with JS. This information is crucial for diagnostic and carrier testing, medical monitoring for progressive complications, and interpretation of variants identified through genome-wide sequencing results. Understanding the genetic basis of JS is facilitating the development of gene-specific treatments. (By Dr. Dan Doherty, <a href=\"http:\/\/jmg.bmj.com\/content\/52\/8\/514\">http:\/\/jmg.bmj.com\/content\/52\/8\/514<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances, and distinctive brain MRI findings. Diagnosis and treatment of JS is challenging due to &gt;28 associated genes and substantial clinical variability. This study provides a relatively unbiased view of the phenotypic range, genetic basis, and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/08\/21\/joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic-heterogeneity\/\">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-797","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\/797","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=797"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/797\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=797"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=797"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=797"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}