无汗型外胚叶发育不良家系调查及基因突变研究  

Genetic analysis of hypohidrotic ectodermal dysplasia

作　　者：王忱[1] 张佳琳 张玉丽 姚越 张国强[2] WANG Chen;ZHANG Jialin;ZHANG Yuli;YAO Yue;ZHANG Guoqiang(Department of Dermatology,Beijing Children's Hospital,Capital Medical University,Beijing 100032,China;Dermatology Department,the First Hospital of Hebei Medical University,Shjiazhuang 050031,China)

机构地区：[1]首都医科大学附属北京儿童医院皮肤科,北京100032 [2]河北医科大学第一医院皮肤科,河北石家庄050031

出　　处：《临床皮肤科杂志》2023年第4期200-202,共3页Journal of Clinical Dermatology

摘　　要：目的:对1例无汗型外胚叶发育不良患者进行家系调查及基因突变分析。方法:对无汗型外胚叶发育不良患者进行家系调查,提取先证者及其父母的外周血标本,应用芯片捕获高通量测序检测先证者突变基因,Sanger测序验证法对核心家庭成员相应目标基因区域进行测序验证。结果:共调查该家系5代18人,发现仅有先证者1人发病,该家族中没有与先证者类似临床症状者。发现先证者及其父亲EDAR基因212号核苷酸由鸟嘌呤G变为腺嘌呤A(c.212G>A),为致病突变。同时先证者及其母亲第2号染色体EDAR基因exon2-12缺失。结论:EDAR基因212号核苷酸错义突变c.212G>A为此例患者的主要致病因素,有利于明确先证者的病因,为临床诊断提供理论依据。Objective:Genetic analysis was performed in a family with hypohidrotic ectodermal dysplasia.Methods:The pedigree of a male case of hypohidrotic ectodermal dysplasia was investigated,and peripheral blood samples were collected from the proband and his parents.Mutation genes in probands were detected by high-throughput sequencing with chip capture.Sanger sequencing method was used to sequence the target genes of nuclear family members.Results:A total of 18 family members frorn 5 generations in this family were investigated,but only the proband was found to have symptoms.It was found that nucleotide 212 of the EDAR gene of the proband and his father changed from guanine G to adenine A(c.212G>A).This mutation was confirmed as pathogenic according to the guidelines for genetic variation of the American Society of medical genetics and genomics.Meanwhile,exon2-12 of EDAR gene on chromosome 2 of the proband and his mother was deleted.Conclusion:The missense mutation c.212G>A in EDAR gene 212 may be a pathogenic cause of hypohidrotic ectodermal dysplasia.This mutation may be used to establish a clinical diagnosis.

关 键 词：外胚叶发育不良 无汗型 基因检测 EDAR基因 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]