To date, there have been only nine reports of 18 Pakistani families with mutations in eight genes already known to be involved in BBS: ARL6 (OMIM #608845)19, 20, BBS1 (OMIM #209901)21, BBS2 (OMIM #606151), BBS5 (OMIM #603650)22, BBS9 (OMIM #615986)23, BBS10 (OMIM #610148)19, 24, 25, BBS12 (OMIM #610683)22, 26 and TTC8 (OMIM #608132)27. This evidence concerns the gene BBS2 and Bardet-Biedl syndrome.