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Seo and Kim: Mutation Analysis of Wilson Disease Gene: Arg778Leu Mutation in Korean Children
Original Article

Korean Journal of Pediatric Gastroenterology and Nutrition 1999; 2(2): 164-168.

Published online: 30 September 1999

DOI: https://doi.org/10.5223/kjpgn.1999.2.2.164

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

Jeong Kee Seo, Jong Won Kim

Department of Pediatrics, Seoul National University, College of Medicine, Korea.

Department of Clinical Pathology, College of Medicine, Sung Kyun Kwan University Samsung Seoul Hospital, Seoul, Korea.

Copyright © 1999 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition

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.

Keywords: Wilson disease gene, Mutation

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