title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
abstract: Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.
authors.affiliation: Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: Deveault
authors.forename: Gail
authors.initials: G
authors.lastname: Billingsley
authors.forename: Jacque L
authors.initials: JL
authors.lastname: Duncan
authors.forename: Jenea
authors.initials: J
authors.lastname: Bin
authors.forename: Rebecca
authors.initials: R
authors.lastname: Theal
authors.forename: Ajoy
authors.initials: A
authors.lastname: Vincent
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Fieggen
authors.forename: Christina
authors.initials: C
authors.lastname: Gerth
authors.forename: Nima
authors.initials: N
authors.lastname: Noordeh
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Gerald A
authors.initials: GA
authors.lastname: Fishman
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Tanja
authors.initials: T
authors.lastname: Knueppel
authors.forename: José M
authors.initials: JM
authors.lastname: Millán
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Debra
authors.initials: D
authors.lastname: Kennedy
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
authors.forename: Grant A
authors.initials: GA
authors.lastname: Mitchell
authors.forename: Kym
authors.initials: K
authors.lastname: Boycott
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020788:Bardet-Biedl Syndrome / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D052202:Hydrocolpos / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014591:Uterine Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology