A new study identifies heterozygous loss-of-function mutations in three additional genes (ALG8, SEC61B and PKHD1) as causative for the development and progression of isolated polycystic liver diseases. Mutations in these genes, together with previously described mutations in other genes (PRKCSH, SEC63, LRP5 and GANAB), might now explain ˜50% of PLD cases.
Refers to Besse, W. et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J. Clin. Invest.127, 1772–1785 (2017)