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Published: 2024-10-15
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DOI: https://doi.org/10.52852/tcncyh.v182i9.2630
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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

1. Lanktree MB, Haghighi A, di Bari I, et al. Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies. Clin J Am Soc Nephrol. 2021;16(5):790-799.
2. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993;329(5):332-342.
3. Chapman AB, Devuyst O, Eckardt KU, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015;88(1):17-27.
4. Kim DY, Park JH. Genetic Mechanisms of ADPKD. In: Park JH, Ahn C, eds. Cystogenesis. Vol 933. Advances in Experimental Medicine and Biology. Springer Singapore; 2016:13-22.
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
6. Cornec-Le Gall E, Torres VE, Harris PC. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. JASN. 2018;29(1):13-23.
7. Nigro E, Amicone M, D’Arco D, et al. Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases. Genes. 2023;14(6):1236.
8. Cornec-Le Gall E, Audrézet MP, Chen JM, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24(6):1006-1013.
9. Pandita S, Ramachandran V, Balakrishnan P, et al. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. J Hum Genet. 2019;64(5):409-419.
10. Jin M, Xie Y, Chen Z, et al. System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. Sci Rep. 2016;6:35945.
11. Hughes J, Ward CJ, Peral B, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet. 1995;10(2):151-160.
12. Nims N, Vassmer D, Maser RL. Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: Evidence for 11 membrane-spanning domains. Biochemistry. 2003;42(44):13035-13048.