Mutations of SDCCAG8 are known to be associated with the human diseases such as nephronophthisis (Otto et al., 2010) and Bardet-Biedl syndrome (BBS) (Schaefer et al., 2011) a rare autosomal recessive ciliopathy with various symptoms, including renal and retinal abnormalities (Forsythe and Beales, 2013). This evidence concerns the gene SDCCAG8 and Bardet-Biedl syndrome.