Abstract：
A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson\'s disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient\'s other allele and was considered a novel mutation, classified as \'likely pathogenic\' according to the American College of Medical Genetics guidelines.
摘要：
一名19岁的日本男子被转诊为肝功能障碍的进一步评估。尽管没有症状或肥胖，肝活检结果与非酒精性脂肪性肝炎一致.随后的调查显示低血清铜蓝蛋白，尿铜排泄增加，和一个已知的突变c.3809A>G（p。Asn1270Ser）在铜转运酶P型ATPase（ATP7B）基因中，导致威尔逊病的诊断。以前未报告的变体，即，c.386A>T（p。Asp1289Val）在患者的其他等位基因上检测到，被认为是一种新的突变，根据美国医学遗传学学会指南，被归类为“可能致病”。
