Hildebrandt et al. found NPHP1 mutations in 21% and IQCB1 in 3% of nephronophthisis families [4], while Wang et al. reported CEP290 as the most frequent gene (42.7%) in 1301 SLS-affected families, followed by NPHP1 (17.4%) and IQCB1 (13.3%) [28]. This evidence concerns the gene NPHP1 and nephronophthisis.