Keandaungjuntr Jesada, Busabaratana Manisa, Kositchaiwat Chomsri, Sura Thanyachai, Pulkes Teeratorn
Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
J Med Assoc Thai. 2011 Oct;94(10):1184-8.
Determine the frequency of mutations in exon 8 of ATP7B gene.
The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed
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.
Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing in Thais.
