Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10 : the first case identified in Korea

features or 3 primary and 2 secondary features In addition to the pleiotropic symptoms and signs observed clinically in multiple organ systems, the genetic background of BBS is quite heterogeneous with significant inter-and intrafamilial variations. The inheritance pattern of BBS is traditionally considered to be autosomal recessive To date, mutations in 16 genes have been identified as causative of BBS. All of these genes account for approximately 80% of clinically diagnosed cases of BBS. Among them, BBS1 and BBS10 are the 2 main genes involved in BBS, and each of these gene mutations presents in more than 20% of the cases [1].