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Background  Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to  PKD1  and  PKD2  gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the imaging diagnosis is uncertain, particularly in simplex cases (i.e. a single occurrence in a family), in people with remarkably mild symptoms, or in individuals with atypical presentations. The main aim of this study is to determine the frequency of  PKD1  gene mutations in Iranian patients with ADPKD diagnosis.    Methods  Genomic DNA was extracted from blood samples from 22 ADPKD patients, who were referred to the Qaem Hospital in Mashhad, Iran. By using appropriate primers, 16 end exons of  PKD1  gene that are regional hotspots, were replicated with PCR. Then, PCR products were subjected to DNA directional Sanger sequencing.    Results  The DNA sequencing in the patients has shown that exons 35, 36 and 37 were non- polymorphic, and that most mutations had occurred in exons 44 and 45. In two patients, an exon-intron boundary mutation had occurred in intron 44. Most of the variants were missense and synonymous types.    Conclusion  In the present study, we have shown the occurrence of nine novel missense or synonymous variants in  PKD1  gene. These data could contribute to an improved diagnostic and genetic counseling in clinical settings.

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease