1例EDA基因新发突变致X隐性连锁少汗性外胚层发育不良1型病例报道
A case report of X-linked hypohidrotic ectodermal dysplasia caused by novel mutation of EDA gene
于梦佳 1孟一璠 1彭惠2
作者信息
- 1. 潍坊医学院临床医学院,山东潍坊 261053
- 2. 济南市中心医院儿童健康发展中心,山东济南 250013
- 折叠
摘要
目的 本研究旨在探讨一例由EDA基因突变引发的X连锁少汗性外胚层发育不良1型(XLHED1)儿童的临床症状和基因表型,以供临床诊断参考.方法 对1例因脱发严重而就医,通过基因检测诊断为ED4基因突变引起的XLHED患儿的临床特征、实验室检查结果、相关影像学检查及其基因检测结果进行回顾性分析,并对相关文献资料进行复习.结果 患儿以排汗能力轻度下降、牙齿轻度缺失、毛发严重稀疏为主要临床表现,全外显子组测序显示患儿EDA基因存在c.422C＞T(p.S141F)半合子突变,蛋白质功能预测为有害性.结论 本次研究首次报道了一例因EDA基因c.422C＞T突变所引起的XLHED男童,增加了 XLHED的基因突变谱,加深了对本病的临床认识.
Abstract
Objective To investigate the clinical symptoms and gene phenotype of children with X-linked hypo-hidrotic ectodermal dysplasia type 1(XLHED1)caused by EDA gene mutation,and to provide reference for clinical diagnosis.Methods A children with XLHED caused by EDA gene mutation was diagnosed by gene detection.The clinical features,laboratory test results,related imaging examinations and gene mutation were retrospectively analyzed,and the relevant litera-ture was reviewed.Results The main clinical manifestations of the child were mild decrease in sweating ability,mild loss of teeth,and severe sparse hair.Whole exome sequencing showed that the patient had a hemizygous mutation c.422C＞T(p.S141F)in the EDA gene,and the protein function was predicted to be damaged.Conclusion This is the first report of a boy with XLHED caused by the c.422C＞T mutation in the EDA gene,which has expanded the gene mutation spectrum of XLHED and deepen the clinical understanding of the disease.
关键词
ED4基因/X连锁少汗性外胚层发育不良/儿童/突变Key words
EDA gene/XLHED/child/mutation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据