Analysis of Exon 8 of ATP7B Gene in Thai Patients with Wilson Disease
Jesada Keandaungjuntr MD*, Manisa Busabaratana BSc**, Chomsri Kositchaiwat MD***, Thanyachai Sura MD**, Teeratorn Pulkes MD, PhD*
Affiliation : * Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand ** Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand *** Division of Gastroenterology and Tropical Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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.
Keywords : Wilson disease, Exon 8, ATP7B gene, Arg778Leu
