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

Jesada Keandaungjuntr; Manisa Busabaratana; Chomsri Kositchaiwat; Thanyachai Sura; Teeratorn Pulkes

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

J Med Assoc Thai. 2011 Oct;94(10):1184-8.

Authors

Jesada Keandaungjuntr¹, Manisa Busabaratana, Chomsri Kositchaiwat, Thanyachai Sura, Teeratorn Pulkes

Affiliation

¹ Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

PMID: 22145502

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Adenosine Triphosphatases / metabolism
Adolescent
Adult
Asian People / genetics
Cation Transport Proteins / genetics*
Cation Transport Proteins / metabolism
Child
Copper-Transporting ATPases
DNA Mutational Analysis
Exons*
Female
Hepatolenticular Degeneration / diagnosis
Hepatolenticular Degeneration / ethnology
Hepatolenticular Degeneration / genetics*
Humans
Male
Mutation, Missense*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Thailand
Young Adult

Substances

Cation Transport Proteins
Adenosine Triphosphatases
ATP7B protein, human
Copper-Transporting ATPases