title: Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
abstract: Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the presence of polycystic kidney disease, polymicrogyria and hydrocephalus. Our study further underlines the power of genetic mapping combined with massively parallel sequencing as a powerful tool for novel disease gene and mutation discovery.
authors.affiliation: Genetics of Learning Disability Service, Newcastle, New South Wales, Australia. mjfield@nsccahs.health.nsw.gov.au
authors.forename: Michael
authors.initials: M
authors.lastname: Field
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Deepak
authors.initials: D
authors.lastname: Gill
authors.forename: Meredith
authors.initials: M
authors.lastname: Wilson
authors.forename: Louise
authors.initials: L
authors.lastname: Christie
authors.forename: Marie
authors.initials: M
authors.lastname: Shaw
authors.forename: Alison
authors.initials: A
authors.lastname: Gardner
authors.forename: Georgie
authors.initials: G
authors.lastname: Glubb
authors.forename: Lynne
authors.initials: L
authors.lastname: Hobson
authors.forename: Mark
authors.initials: M
authors.lastname: Corbett
authors.forename: Kathryn
authors.initials: K
authors.lastname: Friend
authors.forename: Saffron
authors.initials: S
authors.lastname: Willis-Owen
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
mesh_terms: D002526:Cerebellar Diseases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D005091:Exons; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome
chemical_list: C115130:OFD1 protein, human; D011506:Proteins