{"id":275,"date":"2012-03-05T20:09:34","date_gmt":"2012-03-05T20:09:34","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=275"},"modified":"2012-03-06T00:11:46","modified_gmt":"2012-03-06T00:11:46","slug":"genotype%e2%80%93phenotype-correlation-in-cc2d2a-related-joubert-syndrome-reveals-an-association-with-ventriculomegaly-and-seizures","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/genotype%e2%80%93phenotype-correlation-in-cc2d2a-related-joubert-syndrome-reveals-an-association-with-ventriculomegaly-and-seizures\/","title":{"rendered":"Genotype\u2013phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures"},"content":{"rendered":"<p>Ciliopathies are a group of disorders caused by primary cilium dysfunction and characterized by substantial genetic and phenotypic heterogeneity. Establishing genotype-phenotype correlations is critical for directing clinical genetic testing, informing medical management, and interpreting variants identified by genome-wide sequencing technologies. This study reports the spectrum of CC2D2A mutations in CC2D2A-related Joubert syndrome and identifies an enrichment for brain imaging abnormalities (particularlry ventriculomegaly) and seizures in these patients compared to Joubert syndrome as a whole. (By Ruxandra Bachmann-Gagescu, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/2\/126\">http:\/\/jmg.bmj.com\/content\/49\/2\/126<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ciliopathies are a group of disorders caused by primary cilium dysfunction and characterized by substantial genetic and phenotypic heterogeneity. Establishing genotype-phenotype correlations is critical for directing clinical genetic testing, informing medical management, and interpreting variants identified by genome-wide sequencing technologies. This study reports the spectrum of CC2D2A mutations in CC2D2A-related Joubert syndrome and identifies an [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/genotype%e2%80%93phenotype-correlation-in-cc2d2a-related-joubert-syndrome-reveals-an-association-with-ventriculomegaly-and-seizures\/\">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-275","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\/275","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=275"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/275\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=275"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=275"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=275"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}