As p.Pro123Ala was predicted to be a disease-causing mutation by three tools and p.Ile764Met was predicted to be benign by PolyPhen-2, the possibility that p.Leu727Pro in PKD1 and p.Pro123Ala in GANAB co-contribute to the development of polycystic kidney with liver disease cannot be excluded. Here, GANAB is linked to polycystic kidney disease.