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World J Gastroenterol. Oct 14, 2007; 13(38): 5147-5150
Published online Oct 14, 2007. doi: 10.3748/wjg.v13.i38.5147
Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients
Sheng Ye, Liang Gong, Quan-Xiang Shui, Lin-Fu Zhou
Sheng Ye, Quan-Xiang Shui, Department of Pediatrics, Child Hospital, Zhejiang University, Hangzhou 310005, Zhejiang Province, China
Liang Gong, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310005, Zhejiang Province, China
Lin-Fu Zhou, Institute of Medical Biotechnology, Zhejiang University, Hangzhou 310005, Zhejiang Province, China
Author contributions: All authors contributed equally to the work.
Correspondence to: Lin-Fu Zhou, Institute of Medical Biotechnology, Faculty of Basic Medicine, School of Medicine, Zhejiang University, Hangzhou 310005, Zhejiang Province, China. 239zlf@zju.edu.cn
Telephone: +86-571-85937583 Fax: +86-571-88208238
Received: June 4, 2007
Revised: July 23, 2007
Accepted: August 5, 2007
Published online: October 14, 2007
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.

Keywords: Wilson disease, ATP7B gene, Mutations, Polymorphisms