Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.

ABSTRACT

OBJECTIVE: Determine the frequency of mutations in exon 8 of ATP7B gene. MATERIAL AND METHOD: The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed RESULTS: Three heterozygous mutations were identified in four patients. The Arg778Leu (G2333T) and 2299insC mutations have been previously reported. The authors also identified a novel missense mutation, Thr766Arg (C2297G). Despite the Arg778Leu mutation being common in East Asian populations, its frequency in Thais was only 5% in the presented patients. CONCLUSION: Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.