关键词: 少汗型外胚层发育不良；　EDA基因；　产前诊断

Abstract: 　Objective　To explore the genetic variation and genetic counseling in X-linked hypohidrotic ectodermal dysplasia families. Methods　The proband's pathogenic gene and its mutation sites were identified by second generation sequencing, and verified by Sanger sequencing. According to the genetic diagnosis results, prenatal molecular diagnosis was performed for the second fetus of the proband's mother. Results　The proband was male and was found to have fever and special facial features 10 days after birth. It was found the heterozygous mutation of EDA gene, c.682_683delCCinsA, a new mutation, and the mother had the same mutation. The second fetus underwent amniocentesis, and the above mutation was not found in the gene test. Conclusions　Gene detection is helpful to identify the genetic causes of hypohidrotic ectodermal dysplasia in children. On this basis, genetic counseling and prenatal gene diagnosis can be performed for the family of children with hypohidrotic ectodermal dysplasia.

Key words: hypohidrotic ectodermal dysplasia;　EDA gene;　prenatal diagnosis