Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

BACKGROUND: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (PKD1) and PKD2, respectively, are the cause of autosomal dominant PKD (ADPKD). This genetically heterogeneous monogenic disorder is the most common inherited kidney disease. The disease manifests are progressive cyst growth, renal enlargement, and renal failure, due to abnormal proliferation of kidney tubular epithelium. MATERIALS AND METHODS: In this study, mutation analysis of PKD1 and PKD2 genes in nine Iranian families was performed using next-generation sequencing. All patients met the diagnostic criteria of ADPKD. RESULTS: Mutations were found in all 9 families in PKD1 gene, comprising 2 novel and 7 previously reported mutations. No mutation in PKD2 was identified. CONCLUSION: Finding more mutations and expanding the spectrum of PKD1 and PKD2 mutations can increase the diagnostic value of molecular testing in the screening of ADPKD patients.