PKD1 and polycystic kidney disease: Finally, a fetus with polycystic kidney disease carried two missense variants in PKD1 (NM_001009944.2: c.11872G>C, p.(Ala3958Pro); SCV001519082, paternal and c.9499A>T, p.(Ile3167Phe); VCV000440135, maternal) in a compound heterozygous state.