PKHD1 and autosomal dominant polycystic kidney disease: On the other hand, the causative genes of the 11 patients without an apparent family history of ADPKD were variable, including 4 variants in PKD1 (missense (n = 2), nonsense (n = 1), large deletion mutation (n = 1)), 2 variants in PKD2 (frameshift deletion (n = 1), splice-site deletion mutation (n = 1)), 1 missense variant in OFD1, 1 missense variant in WDPCP, 1 missense variant in CEP164, 1 nonsense variant in PKHD1, and 1 unknown.