痒疹样营养不良型大疱性表皮松解症的COL7A1基因变异  

Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa

作　　者：邵依 王建波 张莎莎 窦进法 王晨 张守民 李振鲁 Shao Yi;Wang Jianbo;Zhang Shasha;Dou Jinfa;Wang Chen;Zhang Shoumin;Li Zhenlu(Department of Dermatology,Henan Provincial People’s Hospital,Zhengzhou University People’s Hospital,Henan University People’s Hospital,Zhengzhou,Henan 450003,China;Henan Health Cadre Institute,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院皮肤科,郑州大学人民医院皮肤科,河南大学人民医院皮肤科,郑州450003 [2]河南卫生健康干部学院,郑州450003

出　　处：《中华医学遗传学杂志》2022年第5期518-521,共4页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划省部共建青年项目(SB201904011);河南省自然科学基金青年项目(202300410386)。

摘　　要：目的对1个痒疹样营养不良型大疱性表皮松解症(dystrophic epidermolysis bullosa pruriginosa,DEB-Pr)家系进行基因检测,探讨其可能的致病原因,为临床诊断提供依据。方法应用二代皮肤靶向测序包检测基因变异,再用Sanger测序验证。对变异的致病性进行分析。结果2例患者COL7A1基因均存在c.4128delT(p.Pro1376fs)移码杂合变异和c.8234G>A(p.Arg2745Gln)错义杂合变异,两变异分别来自患者母亲和父亲。其中c.4128delT(p.Pro1376fs)变异为未报道的变异,参照美国医学遗传学与基因组学学会评级指南提示其为致病性变异(PVS1+PM2+PP4),c.8234G>A(p.Arg2745Gln)变异为可能致病性变异(PM2+PM3+PP1+PP4)。结论COL7A1基因c.4128delT和c.8234G>A复合杂合变异可能为本家系的致病原因,基因检测结果扩展了COL7A1的基因变异谱。Objective To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa(DEB-Pr),and explore phetotype,genotype,and genotypes-phenotypes relationship of DEB-Pr.Methods Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing.The pathogenicity of the variation was analyzed.Results Compound heterozygous variants,c.4128delT and c.8234G>A,were detected in the COL7A1 gene of the two patients.The c.4128delT(p.Pro1376fs)variant was derived from their mother and unreported previously.According to the American College of Medical Genetics and Genomics Standards and Guidelines,it was suggested to be a pathogenic mutation.The c.8234G>A(p.Arg2745Gln)variant was derived from their father,and possibly is a pathogenic variation.Conclusion In this study,the compound heterozygous variants of c.4128delT(p.Pro1376fs)and c.8234G>A(p.Arg2745Gln)of the COL7A1 gene probably underlies the disease in this patient and his sister.And our study expands the database on mutations of DEB-Pr.

关 键 词：痒疹样营养不良型大疱性表皮松解症 COL7A1基因 基因型 临床表型 

分 类 号：R758.69[医药卫生—皮肤病学与性病学]