title: Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
abstract: Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA. Affected siblings present a mild and classical form of Joubert syndrome allowing for further delineation of the JS associated genotypic spectrum.
authors.affiliation: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
authors.forename: Susanne
authors.initials: S
authors.lastname: Roosing
authors.affiliation: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
authors.forename: Rasim O
authors.initials: RO
authors.lastname: Rosti
authors.affiliation: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
authors.forename: Basak
authors.initials: B
authors.lastname: Rosti
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.|Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Erik
authors.initials: E
authors.lastname: de Vrieze
authors.affiliation: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Silhavy
authors.affiliation: Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Erwin
authors.initials: E
authors.lastname: van Wijk
authors.affiliation: North West Thames Regional Genetic Service, North West London Hospitals, NHS Trust, London, United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Wakeling
authors.affiliation: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000818:Animals; D002531:Cerebellum / Q000002:abnormalities* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000187:drug effects / Q000473:pathology; D000072661:Ciliopathies / Q000235:genetics* / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics*; D018076:DNA, Complementary / Q000008:administration & dosage; D004195:Disease Models, Animal; D059472:Exome / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D055785:Gene Knockdown Techniques; D006720:Homozygote; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology; D015027:Zebrafish / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D018076:DNA, Complementary; C000608521:KATNIP protein, human; D008869:Microtubule-Associated Proteins