少汗型外胚叶发育不良

A Chinese family with hypohidrotic ectodermal dysplasia: a genetic study and treatment assessment

目的:对一少汗型外胚叶发育不良家系进行基因突变检测并探索二氧化碳点阵激光治疗患儿毛发稀疏的疗效。方法:收集患儿及其家庭成员临床资料及外周血,用二代测序检测致病基因,对二代测序得到的结果进行Sanger测序验证。以剥脱性CO2点阵激光治疗患儿毛发稀疏。结果:基因检测发现患儿及其母亲EDA基因编码序列第1075位核苷酸发生一个杂合突变c.1075A>G(p.K359E),该突变在HGMD专业版数据库中未见报道,为新突变。CO2点阵激光治疗对患儿毛发稀疏的改善不明显。结论:在该少汗型外胚叶发育不良家系中检测到一个EDA基因的新突变c.1075A>G(p.K359E),CO2点阵激光不适用于该病毛发稀疏的治疗。

Objective:A genetic study was performed in a Chinese family with hypohidrotic ectodermal dysplasia and the effect of 10600 nm CO2 ablative fractional laser in treating sparse hair was explored.Methods:The clinical information and peripheral blood samples of the proband and his parents were collected.Next generation sequencing was performed and the re sults were confirmed by Sanger sequencing.The ablative fractional 10600 nm CO2 laser was used to treat the sparse hair of the proband.Results:The genetic study revealed a novel heterozygous mutation c.1075 A>G(p.K359 E)of EDA gene and the ablative fractional 10600 nm CO2 treatment produced insignificant improvement in the patient.Conclusion:A novel heterozygous mutation c.1075 A>G(p.K359 E)of EDA gene is identified in a Chinese family with hypohidrotic ectodermal dysplasia and the ablative fractional 10600 nm CO2 treatment is unsuitable for the sparse hair of the proband.