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

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.

• Authors: Sheng Ye, Liang Gong, Quan-Xiang Shui, Lin-Fu Zhou
• Journal: World journal of gastroenterology (World J Gastroenterol) Vol. 13 Issue 38 Pg. 5147-50 (Oct 14 2007) ISSN: 1007-9327 [Print] United States
• PMID: 17876883 (Publication Type: Journal Article)

Chemical References

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

Topics

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