Indeed, biallelic mutations have been reported in 19 genes, namely BBS1, BBS2, ARL6, BBS4, BBS5, BBS6 (MKKS), BBS7, BBS8 (TTC8), BBS9, BBS10, BBS11 (TRIM32), BBS12, MKS1, CEP290, C2ORF86, SDCCAG8, LZTFL1, BBIP1, IFT27, which account for 70–80% of BBS cases [11, 12]. This evidence concerns the gene MKKS and Bardet-Biedl syndrome.