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


CONCLUSIONS
Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.
Ye
Sheng
S
Department of Pediatrics, Child Hospital, Zhejiang University, Hangzhou 310005, Zhejiang Province, China.
Gong
Liang
L
Shui
Quan-Xiang
QX
Zhou
Lin-Fu
LF
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D000073840:Copper-Transporting ATPases; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases