Genetic analysis showed the presence of heterogeneous mutations in PKHD1 (maternally, c.1486C>T/p.Arg496X; paternally: c.5585C>T/p.Ser1862Leu) and a missense maternal mutation in exon 6 of the PRKCSH gene (c.416G>A; p.Arg139His), responsible for PCLD. This evidence concerns the gene PKHD1 and Isolated polycystic liver disease.