Journal article
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Nature genetics, Vol.28(2), pp.188-191
06/2001
DOI: 10.1038/88925
PMID: 11381270
Abstract
Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.
Details
- Title: Subtitle
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
- Creators
- Kirk Mykytyn - Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, 52242, USATerry BraunRivki CarmiNeena B HaiderCharles C SearbyM ShastriGretel BeckAlan F WrightAlessandro IannacconeK ElbedourR RiiseA BaldiA Raas-RothschildSusan W GormanDavid M DuhlSamuel G JacobsonThomas CasavantEdwin M StoneVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.28(2), pp.188-191
- DOI
- 10.1038/88925
- PMID
- 11381270
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Publisher
- United States
- Grant note
- R01-EY-11298 / NEI NIH HHS
- Language
- English
- Date published
- 06/2001
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979964502771
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