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

摘要: Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism1,2,3,4. The also associated with diabetes mellitus, hypertension, congenital heart disease4,5,6. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13–p12 (BBS3), 15q22.3–q23 (BBS4), 2q31 (BBS5), 20p12 (BBS6)7,8,9,10,11,12,13. Although rare in the general population (<1/100,000), there considerable interest identifying genes causing because components of phenotype, such as obesity diabetes, are common. We others have demonstrated that BBS6 caused mutations gene MKKS (refs. 12,13), mutation which causes McKusick–Kaufman (hydrometrocolpos, post-axial defects)14,15. has sequence homology alpha subunit prokaryotic chaperonin thermosome Thermoplasma acidophilum15. recently identified novel BBS216. BBS2 protein no significant similarity other chaperonins or known proteins. Here we report positional cloning identification patients designated BBS4.