ED1基因新突变导致无汗型外胚层发育不良

目的鉴定一个无汗型外胚层发育不良(HED)家系ED1基因的突变及探讨基因型与表型之间的关系,为该病的诊断,产前诊断及遗传咨询提供实验依据。方法对一个HED家系进行调查,临床资料收集及采集外周血,抽取基因组DNA;设计ED1基因外显子引物,行先证者DNA PCR扩增及序列测定,发现候选变异后对先证者的父母及120名匹配正常人进行突变位点序列分析;推导的该基因氨基酸序列(突变位点)用Clustal W软件进行多物种对比。结果先证者发现ED1基因c.158T>G(p.Leu53Arg)纯合突变,母亲为c.158T>G(p.Leu53Arg)杂合突变;先证者父亲及120例正常对照的序列分析结果未检测出相应位置突变。讨论 ED1基因突变检测是直接诊断HED有效手段之一,发现的c.158T>G(p.Leu53Arg)为新致病突变。

Novel ED1 gene mutation in a HED famlily with hypohidrotic ectodermal dysplasia.

Objective： To identify the mutations of ED1 gene in a Hypohidrotic ectodermal dysplasia （HED） family, which give data to diagnosis comprising phenotype -genotype correlation, genetic consultation and prenatal diagnosis. Methods： To investigate a family with HED, at the same time, the related clinic data was collected. The isolation of genomic DNA was carried out in all family a- vailable members and 120 healthy controls. To detect the ED1 mutation, the primers of 9 exons of ED1 was designed and direct se- quencing was performed. The sequence data and deduced protein amino acids sequenced was analyzed on the softwares of DNA star, Clustal W, respectively. Results： In the family, the affected proband was homozygous of the mutation of c. 158T 〉 G （ p. Leu53Arg）, while the female carrier was heterozygous of this mutation. This mutation was not detected in 120 healthy controls and all healthy family members. Conclusion： The mutation detection through sequencing was an effective method to diagnose the HED. To our knowledge, the mutation c. 158T 〉 G （p. Leu53Arg） was novel.