Identification of a novel missense mutation in Wilson's disease gene

Objective To investigate the allelic heterogeneity of the ATP7B gene in Chinese patients with Wilson's disease (WD). Methods Exons of the ATP7B gene from 141 WD patients' DNA were amplified with polymerase chain reaction (PCR) 887-890. Mutations were then screened by single strand conformation polymorphism (SSCP) analysis and further identified by sequencing. Results The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was analyzed. The same band shift in electrophoretic pattern of 4 cerebral type patients was identified with SSCP and subsequently sequenced. The results showed missense mutation at the second base of the codon as Ser 662 Cys, which is caused by a C to G transversion. Conclusions Mutations of the ATP7B gene were investigated for the first time in China and a never missense mutation was identified in four cases.