Korean J Pediatr Gastroenterol Nutr.  1999 Sep;2(2):164-168.

Mutation Analysis of Wilson Disease Gene: Arg778Leu Mutation in Korean Children

• Seo JK
• Kim JW

Abstract

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups.
METHODS
Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA.
RESULTS
Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons.
CONCLUSION
Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.

Keyword

Wilson disease gene; Mutation

MeSH Terms

Alleles
Base Sequence
Brain
Ceruloplasmin
Child*
Copper
Diagnostic Tests, Routine
DNA
Ethnic Groups
Exons
Hepatolenticular Degeneration*
Homozygote
Humans
Korea
Liver Diseases
Mass Screening
Ceruloplasmin
Copper
DNA