Interestingly, in the context of isolated autosomal dominant polycystic liver disease (ADPLD), Besse and colleagues have reported several individuals with PKHD1 mutations in heterozygote carriers, 10 of 102 ADPLD patients of their cohort were explained by PKHD1 mutations, one of them presented the p.Thr36Me missense variant [30]. This evidence concerns the gene PKHD1 and autosomal dominant polycystic liver disease.