Identification of Novel Pathogenic PKD2 Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Rep Biochem Mol Biol
; 8(4): 401-406, 2020 Jan.
Article
em En
| MEDLINE
| ID: mdl-32582798
ABSTRACT
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 â ACC (c.893G>C, cDNA.959G>C, S298T), TAC â TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA â GAT (c.1059A>T, cDNA.1125 A>T, E353D. These novel pathogenic variants may cause loss of the normal protein function.CONCLUSION:
Our results suggest that AGC â ACC (c.893G>C, cDNA.959G>C, S298T), TAC â TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA â 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.
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Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article