Wilson disease (WD) is an autosomal recessive disorder of copper transport, which is caused by mutation in copper- transporting P-type ATPase (ATP7B). The aim of this study was to detect ATP7B gene mutations in hotspot region of ATP7B gene, including exon 2b, 8, 11, 12, 13. 16 unrelated WD patients were selected for this study
direct DNA sequenceing was used to identify the mutation in ATP7B gene
The results showed that 10/16 (62.5 percent) patients have been found with 6 different known mutations. Mutation detection rate of exon 2b (25 percent) is the highest, including 6 patients having c.314CA (TCG TAG, S105X) mutation and 1 patient having c.525insA (V176S-frameshift). The remaining mutations are c.2333G T (CGGCTG, R778L)
c.2828GA (GGTGAT, G943D), c2954GA (TGC TAC, C9851) and c.3029AC (AAGACG, Kl0l0T). The most common mutation is S105X in exon 2b, accounting for (21.9 percent. the authors trongly recommend that exon 2b should be screened firstly on Vietnamese Wilson patient, before sequencing analysis the whole gene.