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

윌슨 유전자의 돌연변이 분석: 한국 윌슨병 환자에서의 Arg778Leu 돌연변이

  • Seo, Jeong-Kee (Department of Pediatrics, Seoul National University, College of Medicine) ;
  • Kim, Jong-Won (Department of Clinical Pathology, College of Medicine, Sung Kyun Kwan University Samsung Seoul Hospital)
  • 서정기 (서울대학교 의과대학 소아과) ;
  • 김종원 (성균관의대 삼성서울병원 임상병리과)
  • Received : 1999.06.25
  • Accepted : 1999.06.28
  • Published : 1999.09.30


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.