关键词: 遗传性疾病, X连锁, 外胚层发育不良症, 少汗性, EDA基因, 突变, 产前诊断

Abstract: Background　X-linked hypohidrotic ectodermal dysplasia（XL-HED）is a rare genetic disease，often accompanied with severe abnormal sweat gland secretion，without currently available effective clinical treatments. Thus，genetic counseling and accurate prenatal diagnosis are effective measures to prevent or reduce the birth of such neonates.Objective　To perform a gene mutation analysis of a pedigree with XL-HED，offering a reference for the accurate etiological diagnosis of XL-HED，genetic counseling and prenatal diagnosis in people from such a pedigree.Methods　Peripheral venous blood samples were collected from the proband and his blood relatives，and target gene chip capture high-throughput sequencing was carried out for gene detection and the mutant gene was confirmed by Sanger sequencing. Prenatal diagnosis was performed on amniocytes of the proband's elder sister（a pregnant woman）after confirmation of mutant gene locus.Results　A hemizygotic missense mutation c.467G>A（p.Arg156His）of EDA gene was discovered in the proband，which was a previously known pathogenic mutation.The proband's elder sister was found to be a heterozygous carrier. Prenatal diagnosis has detected no mutation in the fetus，so she continued pregnancy.Conclusion　Hemizygotic mutation of EDA gene of proband is the pathogenic mutation of XL-HED，thus we should pay attention to gene mutation analysis and prenatal diagnosis of proband's family members to reduce or avoid the birth of such neonates.

Key words: Genetic diseases, X-linked；Ectodermal dysplasia, hypohidrotic；EDA gene；Mutation；Prenatal diagnosis