[Genetic analysis of a child with ectodermal dysplasia caused by variant of EDA gene]

Authors :: J H, Ye
D M, Li
T, Lyu
W J, Zhao
J J, Guo
J, He
B S, Zhu
Source :: Zhonghua er ke za zhi = Chinese journal of pediatrics. 60(8)
Publication Year :: 2022
Abstract: 患儿男，39日龄，因“咳嗽8 d，腹泻3 d，哭闹12 h，面灰3 h”2020年12月就诊于昭通市第二人民医院，患儿于其母孕25周时B超提示小于孕周11 d，左侧鼻骨偏短，右侧鼻骨缺如。出生后无头发、无眉毛、无汗、高热，诊断为“疑似外胚层发育不良”。父母全外显子组基因检测结果示母亲携带EDA基因c.693delC（p.Gln232Argfs*48）杂合变异。对产前诊断留存的羊水DNA样本进行Sanger测序示患儿该位点为半合子变异。.

Subjects :: Ectodermal Dysplasia 1, Anhidrotic
Ectodermal Dysplasia
Mutation
Humans
Genetic Testing
Ectodysplasins
Child
Pedigree

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