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BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
Author(s) -
Deveault Catherine,
Billingsley Gail,
Duncan Jacque L.,
Bin Jenea,
Theal Rebecca,
Vincent Ajoy,
Fieggen Karen J.,
Gerth Christina,
Noordeh Nima,
Traboulsi Elias I.,
Fishman Gerald A.,
Chitayat David,
Knueppel Tanja,
Millán José M.,
Munier Francis L.,
Kennedy Debra,
Jacobson Samuel G.,
Innes A. Micheil,
Mitchell Grant A.,
Boycott Kym,
Héon Elise
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21480
Subject(s) - ciliopathy , ciliopathies , bardet–biedl syndrome , polydactyly , biology , cohort , disease , genetics , phenotype , genotype , nephronophthisis , bioinformatics , gene , medicine
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. Hum Mutat 32:1–10, 2011. © 2011 Wiley‐Liss, Inc.