Initial studies suggested that WD is a rare disease, with a previously recognized incidence of 1/100,000 to 1/30,000 and a disease-causing gene carrier rate of approximately 1/90.[7] Among the mutations, the 2333G > T (Arg778Leu) mutation in exon 8 has the highest frequency (48%), while the mutation frequency at the 2975C > T site in exon 13 is 29%.[8] In this study, we identified a novel variant of ATP7B c.3715G > T (p.Val1239Phe) in a Chinese family. The gene discussed is ATP7B; the disease is Wilson disease.