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

Genetic Medicinefeatures or 3 primary and 2 secondary features [1,4].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 [1].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].To date, 7 clinically diagnosed cases of BBS have been reportedTwo siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea