title: Clinical and molecular analysis in Joubert syndrome.
abstract: Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome to evaluate the presence of associated malformations, and to initiate studies leading to the identification of the Joubert syndrome gene. Only 8% of patients had polydactyly, 4% colobomas, 2% renal cysts, and 2% had soft tissue tumors of the tongue. In addition, we evaluated the WNT1 gene as a candidate gene for the Joubert syndrome based on its expression in the developing cerebellum and an associated mutation in the swaying mouse. We searched for mutations in WNT1 in a series of Joubert syndrome patients and no mutations were detected. Our analysis suggests that mutations in WNT1 do not cause the Joubert syndrome.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Pellegrino
authors.forename: M W
authors.initials: MW
authors.lastname: Lensch
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D015331:Cohort Studies; D002658:Developmental Disabilities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008934:Mitogens / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D015619:Respiratory System Abnormalities; D013577:Syndrome; D051153:Wnt Proteins; D051155:Wnt1 Protein; D029961:Zebrafish Proteins
chemical_list: D008934:Mitogens; D011518:Proto-Oncogene Proteins; C495247:WNT1 protein, human; D051153:Wnt Proteins; D051155:Wnt1 Protein; D029961:Zebrafish Proteins