关键词: Menkes病； ATP 7 A基因； 变异

Abstract: 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.

Key words: Menkes disease; ATP 7 A gene; variation