TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

• Published in: eLife Vol. 4
• Main Authors: Stephen, Louise A, Tawamie, Hasan, Davis, Gemma M, Tebbe, Lars, Nürnberg, Peter, Nürnberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, André, Ekici, Arif B, McTeir, Lynn, Fraser, Amy M, Hall, Emma A, Mill, Pleasantine, Daudet, Nicolas, Cross, Courtney, Wolfrum, Uwe, Jamra, Rami Abou, Davey, Megan G, Bolz, Hanno J
• Format: Journal Article
• Language: English
• Published: England eLife Sciences Publications, Ltd 19.09.2015; eLife Sciences Publications Ltd
• Subjects: Abnormalities, Multiple - genetics; Animals; Cell Cycle Proteins - genetics; Cell Polarity; centrosome; Centrosome - metabolism; Cerebellum - abnormalities; ciliopathy; Developmental Biology and Stem Cells; Disease Models, Animal; Eye Abnormalities - genetics; Human Biology and Medicine; Humans; Joubert syndrome; KIAA0586; Kidney Diseases, Cystic - genetics; Mice; Mutation; Retina - abnormalities; Talpid3; human biology; stem cells; chicken; Joubert syndrome; developmental biology; medicine; centrosome; ciliopathy; Talpid3; mouse; KIAA0586; cell polarity; human

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous sp...