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Published: 2026-03-31
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DOI: https://doi.org/10.52852/tcncyh.v200i3.4766
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Vol. 200 No. 3 (2026)
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Hương, N. T. M., Hoa, N. P. A., Anh, H. T. V., Mai, N. T. P., Ngọc, N. D., Trang, N. T., Tiến, N. M., Thuỷ, T. T., Dũng, N. T., Chiến, N. M., Thuận, L. Q., & Điển, T. M. (2026). Molecular Characterization of ATP7B Variants in Wilson Disease Patients Presenting with Acute Liver Failure. Journal of Medical Research, 200(3), 252-263. https://doi.org/10.52852/tcncyh.v200i3.4766

Molecular Characterization of ATP7B Variants in Wilson Disease Patients Presenting with Acute Liver Failure

Nguyen Thi Mai Huong, Nguyen Pham Anh Hoa, Hoang Thi Van Anh, Nguyen Thi Phuong Mai, Ngo Diem Ngoc, Nguyen Thuy Trang, Ngo Manh Tien, Trinh Thi Thuỷ, Nguyen Tien Dung, Nguyen Manh Chien, Le Quang Thuan, Tran Minh Dien

Main Article Content

Abstract

Acute liver failure in Wilson disease (ALF-WD) is a rare manifestation associated with a high mortality rate. This study aimed to characterize ATP7B gene variants in patients with Wilson disease presenting with acute liver failure. A total of 46 ALF-WD cases were analyzed using Sanger sequencing, and variants were interpreted according to ACMG/AMP guidelines. The results showed that 67.39% of patients carried compound heterozygous genotypes, while 32.61% had homozygous genotypes within 29 identified ATP7B variants p.Ser105Ter variant was the most common, predominantly observed in pediatric patients. Other frequent variants included p.Leu1371Pro, p.Ile1148Thr, p.Thr850Ile, and p.Arg778Leu. Exons 2 and 20 were identified as mutation hot - spot, particularly in patients younger than 18 years old. In conclusion, the ATP7B variant spectrum in ALF-WD is heterogeneous but shows clustering in key functional exons, which is valuable for early diagnosis and therapeutic decision-making, including timely liver transplantation.

Article Details

Keywords

ATP7B gene, wilson disease, variant, acute liver failure (ALF)

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