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en Identification of Novel Pathogenic PKD2 Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;">Background: Autosomal dominant polycystic kidney disease (ADPKD) is a delayed-onset renal disorder that results from a mutation in the PKD1 or PKD2 genes. Autosomal dominant polycystic kidney disease results in end-stage renal disease due to renal cystic dysplasia. The aim of this study was to evaluate, by exon sequencing, the disease-causing variants of PKD2 (exons 4, 6, and 8) in Iranian ADPKD patients. Methods: Genomic DNA was extracted from 3-5 ml of peripheral blood by the salting-out method. PKD2 exons 4, 6, and 8 were PCR-amplified and sequenced. Results: Three disease-causing PKD2 variants were identified; all three were missense mutations in exon 4. The mutations were AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D. These novel pathogenic variants may cause loss of the normal protein function. Conclusions: Our results suggest that AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D variants are common in Iranian ADPKD patients. These mutations modify the transmembrane domain and likely influence PC2 function.</div> Pathogenic Variants, PKD2, Autosomal Dominant Polycystic Kidney Disease. 401 406 http://rbmb.net/browse.php?a_code=A-10-233-2&slc_lang=en&sid=1 Morteza Bagheri mortazabagheri@yahoo.com 100319475328460017424 100319475328460017424 Yes Nephrology and Kidney Transplant Research Center, Urmia University of Medical Sciences, Urmia, Iran. & Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran. Khadijeh Makhdoomi makhdoomikhadijeh@yahoo.com 100319475328460017425 100319475328460017425 No Nephrology and Kidney Transplant Research Center, Urmia University of Medical Sciences, Urmia, Iran. Ali Taghizadeh Afshari atafshari@yahoo.com 100319475328460017426 100319475328460017426 No Nephrology and Kidney Transplant Research Center, Urmia University of Medical Sciences, Urmia, Iran. Ahmad Ali Nikibakhsh anikibakhsh@yahoo.com 100319475328460017427 100319475328460017427 No Nephrology and Kidney Transplant Research Center, Urmia University of Medical Sciences, Urmia, Iran. Isa Abdi Rad isaabdirad@yahoo.com 100319475328460017428 100319475328460017428 No Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran.