Reports of Biochemistry and Molecular Biology

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.