目的 分析Menkes病基因变异特征。方法 回顾分析2例Menkes病患儿的临床资料以及ATP 7 A基因检测 结果。结果 例1患儿为男性，2月龄，ATP 7 A基因第21外显子存在c.4077 dupT的纯合变异。例2患儿为男性，4月龄， ATP 7 A基因第10外显子存在c.2354delC的纯合变异，2例患儿家系验证父母均为野生型。这2种变异在HGMD数据库中 均未报道，根据ACMG指南划分为致病变异。结论 对2例患儿家系的遗传学分析丰富了中国人ATP 7 A基因的变异谱， 也为临床医师早期诊断和遗传咨询提供帮助。

Objective To explore the genetic variation characteristics of Menkes disease. Method The clinical data and ATP 7 A gene test results of Menkes disease in 2 children were retrospectively analyzed. Results Case 1 was a 2 -month-old boy with a homozygous variation of c. 4077 dupT in exon 21 of ATP 7 A gene. Case 2 was a 4 -month-old boy with a homozygous variation of c. 2354 delC in exon 10 of ATP 7 A gene. The pedigree of the two children confirmed that the parents were wild type. These two variants were not reported in HGMD database, and were classified as pathogenic variants according to ACMG guidelines. Conclusion The genetic analysis of the two families enriched the variation spectrum of ATP 7 A gene in Chinese, and also provided help for clinicians in early diagnosis and genetic counseling.