BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
Catherine Deveault(Hospital for Sick Children), Gail Billingsley(Hospital for Sick Children), Jacque L. Duncan(University of California, San Francisco), Jenea M. Bin(Hospital for Sick Children), Rebecca Theal(Hospital for Sick Children), Ajoy Vincent(Hospital for Sick Children), Karen Fieggen(University of Cape Town), Christina Gerth‐Kahlert(Hospital for Sick Children), Nima Noordeh(Hospital for Sick Children), Elias I. Traboulsi(Cleveland Clinic), Gerald A. Fishman(University of Illinois Chicago), David Chitayat(Hospital for Sick Children), Tanja Knueppel(Heidelberg University), José M. Millán(Centre for Biomedical Network Research on Rare Diseases), Francis L. Munier(Hôpital Ophtalmique Jules-Gonin), Debra Kennedy(Royal Hospital for Women), Samuel G. Jacobson(Penn Presbyterian Medical Center), A. Micheil Innes(University of Calgary), Grant A. Mitchell(Centre Hospitalier Universitaire Sainte-Justine), Kym M. Boycott(Children's Hospital of Eastern Ontario), Elise Héon(Hospital for Sick Children)
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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.
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