RESUMEN

@#To determine the mutational characterization of Ptype ATP7B gene in a Chinese family with neurological Wilson disease （WD）.Methods Genomic DNA was isolated from venous blood samples of all available family members. The exons and exon-intron boundaries of ATP7B in four members were analyzed by Sanger sequencing. Results The proband was presented with memory loss，unclear speech and involuntary shaking，k-f ring with normal liver function. By direct Sanger sequencing of ATP7B，the proband have carried two heterozygous missense mutations c.2333G>T p.R778L and c.2975C>T p.P992 L，which were derived her mother and father respectively. The younger brother of the proband carried c.2333G>T p.R778L with nomal presentation. Conclusion We identified two heterozygous missense mutations （c.2120A>G p.Q707R and c.2333G>T p.R778L） were this neurological WD causative sites，which have important guiding significance for the risk of offspring recurrence in this family.