AB088. Mutation analysis of 16 Vietnamses Wilson patients

Abstract

Background

Wilson disease (WD) is an autosomal recessive disorder of copper transport, which is caused by mutation in copper-transporting P-type ATPase (ATP7B).

Objective

The aim of this study was to detect mutations in hot-spot region of ATP7B gene, including exon 2b, 8, 11, 12, and 13. Sixteen unrelated WD patients were selected for this study.

Methods

Direct DNA sequencing was used to identify the mutation in ATP7B gene.

Results and conclusions

The results showed that 10/16 (62.5%) patients have been found with six different known mutations. Mutation detection rate of exon 2b (25%) is the highest, including six patients having c.314C > A (TCG > TAG, S105X) mutation and one patient having c.525insA (V176S-frameshift). The remaining mutations are c.2333G > T (CGG > CTG, R778L); c.2828G > A (GGT > GAT, G943D), c2954G > A (TGC > TAC, C985T) và c.3029A > C (AAG > ACG, K1010T). The most common mutation is S105X in exon 2b, accounting for 21.9%. We strongly recommend that exon 2b should be screened firstly on Vietnamese Wilson patient, before sequencing analysis the whole gene.