Bardet-Biedl syndrome has a prevalence of 1 in 125,000 [104] and is caused by mutations in BBS genes, but also in genes associated with other ciliopathies, such as NPHP6, NPHP11, MKS1, SDCCAG8, LZTFL1, BBIP1 and IFT27. BBS proteins localize to the basal body and the axoneme of cilia, and contribute to the formation of the BBSome, a multiprotein complex responsible for transportation of intracellular vesicles to the base of cilia. This evidence concerns the gene MKS1 and ciliopathy.