Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

A novel Bardet-Biedl syndrome (BBS) gene BBS12 was identified by a combination of single-nucleotide polymorphism array homozygosity mapping with in silico analysis. The identification of BBS12, mutated in 5% of families with BBS, allowed the individualization of a novel branch of vertebrate-specific chaperonin-related proteins that account for one-third of the mutational load in patients with BBS.