Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry Braun, Rivka Carmi, Neena B. Haider, Charles C. Searby, Mythreyi Shastri, Gretel Beck, Alan F. Wright, Alessandro Iannaccone, Khalil Elbedour, Ruth Riise, Alfonso Baldi, Annick Raas-Rothschild, Susan W. Gorman, David M. Duhl, Samuel G. Jacobson, Thomas Casavant, Edwin M. Stone, Val C. Sheffield

Research output: Contribution to journalArticlepeer-review

219 Scopus citations


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.

Original languageEnglish
Pages (from-to)188-191
Number of pages4
JournalNature Genetics
Issue number2
StatePublished - 26 Jun 2001

ASJC Scopus subject areas

  • Genetics


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