[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children]

M Y Wang; Y D Zhang; Z H Xie; G W Wang; J Wang; C F Chen; Y T Duan; D X Li

doi:10.3760/cma.j.cn112140-20240403-00235

[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children]

Zhonghua Er Ke Za Zhi. 2024 Oct 2;62(10):997-999. doi: 10.3760/cma.j.cn112140-20240403-00235.

[Article in Chinese]

Authors

M Y Wang¹, Y D Zhang¹, Z H Xie¹, G W Wang¹, J Wang¹, C F Chen¹, Y T Duan¹, D X Li¹

Affiliation

¹ Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Provincial Clinical Research Center for Pediatric Diseases, Henan Children's Neurodevelopmental Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.

PMID: 39327969
DOI: 10.3760/cma.j.cn112140-20240403-00235

Abstract

2例男性少汗性外胚层发育不良患儿，分别因“毛发发育异常”和“少牙畸形”就诊，例1主要表现为毛发稀疏、无汗、面部畸形及全身皮肤干燥粗糙等，例2主要表现为少牙畸形、毛发稀疏、少汗等。基因检测结果显示例1 EDA基因存在c.111delG（p.N38Tfs*19）半合子移码变异，例2 EDA基因存在c.463C>T（p.R155C）半合子错义变异。基因检测可对该病进行明确诊断，为遗传咨询及产前诊断提供指导。.

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
DNA Mutational Analysis
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics
Ectodermal Dysplasia 1, Anhidrotic / diagnosis
Ectodermal Dysplasia 1, Anhidrotic / genetics
Ectodysplasins* / genetics
Genetic Testing / methods
Hemizygote
Humans
Infant
Male
Mutation

Substances

Ectodysplasins
EDA protein, human