PKHD1 and autosomal dominant polycystic kidney disease: We identified two disease-causing variants in PKD1 (c.9013C > T, p. Gln3005Ter) and PKHD1 (c.4870C > T, p. Arg1624Trp), associated with ADPKD and autosomal recessive polycystic kidney disease (ARPKD), respectively.