X-连锁少汗型外胚层发育不良家系的基因突变分析及产前诊断  

Gene Mutation Analysis and Prenatal Diagnosis for Chinese People from a Pedigree with X-linked Hypohidrotic Ectodermal Dysplasia

作　　者：金玉霞 李素萍 李晶 唐萍 JIN Yuxia;LI Suping;LI Jing;TANG Ping(Jiaxing Maternity and Children Health Care Hospital/the Affiliated Women and Children’s Hospital of Jiaxing University,Jiaxing 314050,China)

机构地区：[1]浙江省嘉兴市妇幼保健院嘉兴学院附属妇儿医院,314050

出　　处：《中国全科医学》2021年第6期740-743,共4页Chinese General Practice

基　　金：浙江省基础公益研究计划项目(LGF18H040008,LGF19H040005);浙江省医药卫生科技计划项目(2017KY654,2019KY221);嘉兴市科技局基金项目(2018AY32022);嘉兴学院理工类“重大科研项目和成果”培育项目(CD70117042);贺林院士新医学科研基金(19331201,19331202)。

摘　　要：背景X-连锁少汗型外胚层发育不良(XL-HED)是一种罕见的遗传性疾病,患者常伴有严重的汗腺分泌异常,但目前临床尚无有效的治疗方法,因此遗传咨询及准确的产前诊断是预防和减少此类患儿出生的有效措施。目的对一个XL-HED家系进行基因突变分析,为该家系成员提供准确病因诊断、遗传咨询及产前诊断。方法抽取先证者及与其有血缘关系的家系成员外周静脉血,采用目标芯片捕获高通量测序法进行基因检测,并对突变基因进行Sanger测序验证。在确定家系突变基因位点后,抽取先证者姐姐(孕妇)羊水进行产前诊断。结果先证者为Ectodysplasin A(EDA)基因半合子突变,突变位点为c.467G>A(p.Arg156His),为已知致病性突变。先证者姐姐为EDA基因杂合突变,但胎儿不存在EDA基因突变,先证者姐姐可以继续妊娠。结论先证者EDA基因半合子突变是XL-HED的致病性突变,应重视先证者家系成员的基因突变分析和产前诊断,以减少及避免少XL-HED患儿的出生。Background X-linked hypohidrotic ectodermal dysplasia(XL-HED)is a rare genetic disease,often accompanied with severe abnormal sweat gland secretion,without currently available effective clinical treatments.Thus,genetic counseling and accurate prenatal diagnosis are effective measures to prevent or reduce the birth of such neonates.Objective To perform a gene mutation analysis of a pedigree with XL-HED,offering a reference for the accurate etiological diagnosis of XLHED,genetic counseling and prenatal diagnosis in people from such a pedigree.Methods Peripheral venous blood samples were collected from the proband and his blood relatives,and target gene chip capture high-throughput sequencing was carried out for gene detection and the mutant gene was confirmed by Sanger sequencing.Prenatal diagnosis was performed on amniocytes of the proband’s elder sister(a pregnant woman)after confirmation of mutant gene locus.Results A hemizygotic missense mutation c.467G>A(p.Arg156 His)of EDA gene was discovered in the proband,which was a previously known pathogenic mutation.The proband’s elder sister was found to be a heterozygous carrier.Prenatal diagnosis has detected no mutation in the fetus,so she continued pregnancy.Conclusion Hemizygotic mutation of EDA gene of proband is the pathogenic mutation of XL-HED,thus we should pay attention to gene mutation analysis and prenatal diagnosis of proband’s family members to reduce or avoid the birth of such neonates.

关 键 词：遗传性疾病 X连锁 外胚层发育不良症 少汗性 EDA基因 突变 产前诊断 

分 类 号：R596.1[医药卫生—内科学] R729[医药卫生—儿科]