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. 2011 Jun;32(6):610-9.
doi: 10.1002/humu.21480. Epub 2011 Mar 22.

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

Catherine Deveault  1 , 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
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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault et al. Hum Mutat. 2011 Jun.

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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