Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients

World J Gastroenterol. 2007 Oct 14;13(38):5147-50. doi: 10.3748/wjg.v13.i38.5147.

Abstract

Aim: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics.

Methods: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin.

Results: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found.

Conclusion: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adolescent
  • Asian People / ethnology
  • Asian People / genetics
  • Case-Control Studies
  • Cation Transport Proteins / genetics*
  • Child
  • Child, Preschool
  • China
  • Copper-Transporting ATPases
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods
  • Genotype
  • Hepatolenticular Degeneration / ethnology*
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Liver / pathology
  • Male
  • Mutation / genetics*
  • Phenotype
  • Sequence Analysis, DNA

Substances

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