Our results support the findings of previous studies: heterozygous pathogenetic IFT140 variants are the third genetic cause of ADPKD, and liver involvement is rare (BO-215) and many carriers show atypical features in renal cyst size and locations, such as large, exophytic cysts (BO-183), with a total kidney volume not increased and preserved renal function compared to classical ADPKD caused by PKD1/2 variants. Here, PKD1 is linked to autosomal dominant polycystic kidney disease.