少汗型外胚层发育不良一家系EDA基因突变分析

目的分析X连锁少汗型外胚层发育不良家系的基因变异及遗传咨询。方法采用二代测序法查找先证者致病基因及其突变位点,Sanger测序验证。根据基因诊断结果对先证者母亲第2胎进行产前分子诊断。结果先证者男性,出生10天,因发热、特殊面容就诊。经基因检测发现EDA基因c.682_683delCCinsA杂合突变,母亲具有相同突变。第2胎经羊水穿刺,基因检测未发生以上突变。结论基因检测有助于明确少汗型外胚层发育不良家系患儿的遗传病因,在此基础上可对患儿家系进行遗传咨询和产前基因诊断。

EDA gene mutation in hypohidrotic ectodermal dysplasia in a family

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.