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Published: 2025-09-30
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DOI: https://doi.org/10.52852/tcncyh.v194i9.3879
Issue
Vol. 194 No. 9 (2025)
Section
Các bài báo
How to Cite
Trang, N. Đoan, Đan, L. H., Anh, P. Q., Thơ, N. N., Phong, T. H., Lộc, N. T., Linh, P. P., & Trang, N. T. (2025). 7. Carrier frequency and spectrum of pathogenic ATP7B variants in pregnant Vietnamese women: A study of 8,464 cases. Journal of Medical Research, 194(9), 56-64. https://doi.org/10.52852/tcncyh.v194i9.3879

7. Carrier frequency and spectrum of pathogenic ATP7B variants in pregnant Vietnamese women: A study of 8,464 cases

Nguyen Doan Trang, Le Hoang Dan, Pham Quang Anh, Nguyen Ngoc Tho, Tran Hieu Phong, Nguyen Tien Loc, Pham Phuong Linh, Nguyen Thi Trang

Main Article Content

Abstract

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. This study aimed to determine the carrier frequency and spectrum of ATP7B variants among a cohort of Vietnamese pregnant women who voluntarily participated in a genetic screening program conducted from November 2023 to January 2025. Next-generation sequencing (NGS) was employed to identify pathogenic variants. The results revealed that 215 individuals carried at least one mutant allele, corresponding to a carrier frequency of 2.54% (approximately 1 in 40). A total of 217 mutant alleles were identified, comprising 40 distinct variants distributed across 13 exons and 4 introns of the ATP7B gene. Among these, missense variants were predominant (78.8%), with the highest frequencies located in exons 10, 12, 2, and 8. The relatively high carrier rate and the diverse variants spectrum underscore the need to enhance public health education about Wilson’s disease and to strengthen genetic screening and counseling programs as part of preventive healthcare strategies.

Article Details

Keywords

ATP7B variants, Wilson disease, Vietnamese pregnant women

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