Sgro et al. [9] reported the compound heterozygous genotype PKHD1 IVS55+1G→A/p.Trp 2690Arg in patients detected prenatally with Caroli disease; IVS55+1G→A was inherited from the father and the missense mutation p.Trp2690Arg from the mother, which is consistent with a recessive pattern of inheritance. Here, PKHD1 is linked to Caroli disease.