PKD1 and autosomal dominant polycystic kidney disease: In the female proband, pathogenic compound heterozygous variants in the ADPKD gene PKD1 were identified—a paternally inherited pathogenic missense variant (NM_001009944.3:c.9829C > T; p.Arg3277Cys) and a maternally inherited pathogenic stop-gain variant (NM_001009944.3:c.1597C > T; p.Gln533Ter).