Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

ABSTRACT:

Background

Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the ATP7B gene. In this study, we screened and identified the ATP7B mutations among unrelated Vietnamese pediatric patients.

Methods

One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited. DNA samples were extracted from peripheral blood. Mutations in the ATP7B gene were identified by Sanger sequencing.

Results

Approximately 98% of the clinically diagnosed WD patients carried ATP7B mutations. A total of 35 different ATP7B variants were detected, including five novel mutations (L658P, L792P, T977K, IVS4 + 1G > A and IVS20 + 4A > G). Remarkably, this study revealed that S105* wa

SUBMITTER: Huong NTM 

PROVIDER: S-EPMC9248214 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature