Journal
HUMAN MUTATION
Volume 32, Issue 6, Pages 610-619Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.21480
Keywords
Bardet-Biedl syndrome; BBS; mutation; sequencing; blindness
Categories
Funding
- Foundation Fighting Blindness-Canada
- Research to Prevent Blindness
- Foundation Fighting Blindness
- NIH-NEI [EY002162]
- That Man May See, Inc.
- Bernard A. Newcomb Macular Degeneration Fund
- Hope for Vision
- Swiss National Science Foundation [320030.127558]
- Swiss National Science Foundation (SNF) [320030_127558] Funding Source: Swiss National Science Foundation (SNF)
Ask authors/readers for more resources
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 Alstrom and McKusick-Kauffman syndromes. Hum Mutat 32: 610-619, 2011. (C) 2011 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available