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Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients
Sheng Ye1, Liang Gong, Quan-Xiang Shui
1Department of Pediatrics, Child Hospital, Zhejiang University, Hangzhou 310005, Zhejiang Province, China.
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.
