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.
