Identification of Novel Pathogenic PKD2 Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease

• Published in: Reports of biochemistry and molecular biology 2020-01, Vol.8 (4), p.401-406
• Main Authors: Bagheri, Morteza, Makhdoomi, Khadijeh, Taghizadeh Afshari, Ali, Nikibakhsh, Ahmad Ali, Abdi Rad, Isa
• Format: Article
• Language: English
• Subjects: Original
• ISSN: 2322-3480; 2322-3480

Autosomal dominant polycystic kidney disease (ADPKD) is a delayed-onset renal disorder that results from a mutation in the or 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 (exons 4, 6, and 8) in Iranian ADPKD patients. Genomic DNA was extracted from 3-5 ml of peripheral blood by the salting-out method. exons 4, 6, and 8 were PCR-amplified and sequenced. Three disease-causing 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. 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.