Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

• Published in: American journal of human genetics Vol. 97; no. 5; pp. 744 - 753
• Main Authors: Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 05.11.2015; Cell Press; Elsevier
• Subjects: Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Adult; Canada - epidemiology; Cerebellum - abnormalities; Cerebellum - pathology; Child; Child, Preschool; Cilia - metabolism; Cilia - pathology; Exome - genetics; Eye Abnormalities - epidemiology; Eye Abnormalities - genetics; Eye Abnormalities - pathology; Female; Follow-Up Studies; Genetic disorders; Genetics; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Infant; Infant, Newborn; Kidney Diseases, Cystic - epidemiology; Kidney Diseases, Cystic - genetics; Kidney Diseases, Cystic - pathology; Male; Microtubule-Associated Proteins - genetics; Mutation; Mutation - genetics; Pathogenesis; Pedigree; Prognosis; Retina - abnormalities; Retina - pathology; Young Adult; Canada

Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the geneti...