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Published: 2024-10-15
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DOI: https://doi.org/10.52852/tcncyh.v182i9.2630
Issue
Vol. 182 No. 9 (2024)
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Thủy, N. T. A. ., Khánh, T. V. ., Tuyển, Đỗ G. ., Hà, V. T. ., & Dũng, N. T. . (2024). Investigation of the pathogenicity of PKD1 gene variants in autosomal dominant polycystic kidney disease. Journal of Medical Research, 182(9), 18-27. https://doi.org/10.52852/tcncyh.v182i9.2630

Investigation of the pathogenicity of PKD1 gene variants in autosomal dominant polycystic kidney disease

Nguyen Thi An Thuy, Tran Van Khanh, Do Gia Tuyen, Vu Thi Ha, Nghiem Trung Dung

Main Article Content

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and the main cause of the disease is variants in the PKD1 gene. However, the classification of variants and the relationship between the genotype and phenotype of ADPKD patients is unclear. We used whole exon sequencing - WES to identify PKD1 gene variants in 7 patients with polycystic kidney disease and assess the pathogenicity of variants according to the genetic databases and in-silico prediction software. The results detected 12 variants in the PKD1 gene. Among them, 8/12 variants (66.7%) are pathogenic, 3/12 variants (25%) are benign, and 1 variant (8.3%) has no data on in-silico tools. The data on variants of the PKD1 gene in our study are meaningful in contributing to the general database in hereditary polycystic kidney disease. However, further studies with more patients are needed to confirm the pathogenicity of variants that have not been reported or have unknown functions.

Article Details

Keywords

Autosomal dominant polycystic kidney disease, PKD1 gene variants

References

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