有汗型外胚层发育不良家系调查及基因突变研究  

Genetic analysis of a Chinese family with hidrotic ectodermal dysplasia by whole exome sequencing

作　　者：林雪雯 赵敏[1] 周蓝波 毕凌波 王超凡 范卫新[1] LIN Xuewen;ZHAO Min;ZHOU Lanbo;BI Lingbo;WANG Chaofan;FAN Weixin(Department of Dermatology and Venereology,the First Afiliated Hospital of Nanjing Medical University,Nanjing 210029,China;Department of Dermatology and Venereology,the Afiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215000,China)

机构地区：[1]南京医科大学第一附属医院皮肤性病科,江苏南京210029 [2]南京医科大学附属苏州医院皮肤性病科,江苏苏州215000

出　　处：《临床皮肤科杂志》2023年第4期195-199,共5页Journal of Clinical Dermatology

摘　　要：目的:报告1例有汗型外胚层发育不良家系的致病基因突变。方法:收集患者临床资料,提取先证者及其部分亲属外周血DNA进行全外显子测序,Sanger测序验证致病突变。结果:先证者GJB6基因编码区发生杂合无义突变c.263C>T(p.A88V),突变来自其母亲。在其4位患病亲属中检测到相同突变,在其父亲(正常人)中未检测到此突变。结论:GJB6基因c.263C>T(p.A88V)杂合突变是该家系的遗传学致病因素。Objective:To determine the pathogenic genetic mutations in a Chinese family with hidrotic ectodermal dysplasia(HED).Methods:Clinical data were collected.Genomic DNA from the blood of the proband and her several familial members were extracted to perform whole exome sequencing(WES).Sanger sequencing was followed to verify the pathogenic mutations.Results:A heterozygous missense mutation c.263C>T(p.Ala88Val)of GJB6 gene was found in the detected patients of the family,but not in the proband's father.The mutation in the proband was inherited from her mother.Conclusion:The heterozygous mutation c.263C>T(p.A88V)in the GJB6 gene is the causative genetic factor for HED in this family.

关 键 词：外胚层发育不良 有汗型 秃发 指(趾)甲 畸形 GJB6基因突变 DNA突变分析 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]