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


Deveault, C; Billingsley, G; Duncan, J L; Bin, J; Theal, R; Vincent, A; Fieggen, K J; Gerth, C; Noordeh, N; Traboulsi, E I; Fishman, G A; Chitayat, D; Knueppel, T; Millan, J M; Munier, F L; Kennedy, D; Jacobson, S G; Innes, A M; Mitchell, G A; Boycott, K; Héon, E (2011). BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation, 32(6):610-619.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:15 Jan 2012 07:57
Last Modified:05 Apr 2016 15:21
Publisher:Wiley-Blackwell
ISSN:1059-7794
Publisher DOI:https://doi.org/10.1002/humu.21480
PubMed ID:21344540

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