PKD1 and autosomal dominant polycystic kidney disease: While the missense mutation associated with BTPKD in this study has not been reported in ADPKD, 10 missense mutations in PKD1 producing amino acid changes in the first cytoplasmic loop of the protein have been reported [34]–[40], of which six were shown to segregate with the disease phenotype [35], [38], [40].