Prenatal Diagnosis and Medical Genetics Program

Toronto, Canada

Prenatal Diagnosis and Medical Genetics Program

Toronto, Canada

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Deveault C.,The Hospital for Sick Children | Billingsley G.,The Hospital for Sick Children | Duncan J.L.,University of California at San Francisco | Bin J.,The Hospital for Sick Children | And 18 more authors.
Human Mutation | Year: 2011

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. © 2011 Wiley-Liss, Inc.

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