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BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

✍ Scribed by Catherine Deveault; Gail Billingsley; Jacque L. Duncan; Jenea Bin; Rebecca Theal; Ajoy Vincent; Karen J. Fieggen; Christina Gerth; Nima Noordeh; Elias I. Traboulsi; Gerald A. Fishman; David Chitayat; Tanja Knueppel; José M. Millán; Francis L. Munier; Debra Kennedy; Samuel G. Jacobson; A. Micheil Innes; Grant A. Mitchell; Kym Boycott; Elise Héon

Book ID
102260622
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
313 KB
Volume
32
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 Alstro ¨m and McKusick-Kauffman syndromes.

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