METHODS: A single-center cohort study enrolled 44 WD patients with c.3316 G > A variant from 43 unrelated Chinese families (19 males [43.2%], 25 females [56.8%]), and randomly selected 44 hospitalized WD patients with ATP7B mutations other than c.3316 G > A as the comparison group. The gene discussed is ATP7B; the disease is Wilson disease.