Among 75 ADPKD subjects with genotype data available, 56 were found to have pathogenic mutation of either PKD1 or PKD2—there were 40 subjects with PKD1-only mutation, 14 subjects with PKD2-only mutation and 2 subjects with both PKD1 and PKD2 mutations. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.