%0 Journal Article %A Bagheri, Morteza %A Makhdoomi, Khadijeh %A Taghizadeh Afshari, Ali %A Nikibakhsh, Ahmad Ali %A Abdi Rad, Isa %T Identification of Novel Pathogenic PKD2 Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease %J Reports of Biochemistry and Molecular Biology %V 8 %N 4 %U http://rbmb.net/article-1-381-en.html %R %D 2020 %K Pathogenic Variants, PKD2, Autosomal Dominant Polycystic Kidney Disease., %X 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. %> http://rbmb.net/article-1-381-en.pdf %P 401-406 %& 401 %! Disease causing variants of PKD2 gene in Iran %9 Original Article %L A-10-233-2 %+ 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. %G eng %@ 2322-3480 %[ 2020