PKD1 and urolithiasis: The variation is located within a WSC domain, a putative carbohydrate binding domain, which can potentially disturb this domain and abolish its function.29 In another female with urolithiasis, HTN, chronic kidney disease (CKD), ESRD before age 60, and renal transplantation at 54 years of age, we identified a novel heterozygous 1-bp duplication (c.1938dupG) in exon 10 of the PKD1 gene, resulting in frameshift and premature termination of p.(Cys647ValfsTer67), which was predicted to be pathogenic by three predicting tools (Table 1 & Table S2).