{"id":888,"date":"2016-05-06T18:21:41","date_gmt":"2016-05-06T18:21:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=888"},"modified":"2026-02-25T00:09:08","modified_gmt":"2026-02-25T00:09:08","slug":"mutations-in-cep120-cause-joubert-syndrome-as-well-as-complex-ciliopathy-phenotypes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/06\/mutations-in-cep120-cause-joubert-syndrome-as-well-as-complex-ciliopathy-phenotypes\/","title":{"rendered":"Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (Contributed by Dr. Susanne Roosing)"},"content":{"rendered":"

Ciliopathies are an extensive group of disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. Our study resulted in the identification of six probands carrying nine distinct mutations (of which eight are novel) in the CEP120<\/em> gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy. The CEP120-associated phenotype ranges from mild classical JS in four patients, to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies. Our findings broaden the spectrum of phenotypes caused by CEP120<\/em> mutations, that account for nearly 1% of JS patients as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies. (http:\/\/jmg.bmj.com\/content\/early\/2016\/05\/06\/jmedgenet-2016-103832<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Ciliopathies are an extensive group of disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. Our study resulted in the identification of six probands carrying nine distinct mutations (of which […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-888","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (Contributed by Dr. Susanne Roosing) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/05\/06\/mutations-in-cep120-cause-joubert-syndrome-as-well-as-complex-ciliopathy-phenotypes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (Contributed by Dr. Susanne Roosing) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ciliopathies are an extensive group of disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. 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