KRT5基因新生突变致重度型单纯型大疱性表皮松解症一家系  

A family of severe epidermolysis bullosa simplex caused by a de novo mutation in the KRT5 gene

作　　者：王小坡 陈志明 杨勇 孙建方 Wang Xiaopo;Chen Zhiming;Yang Yong;Sun Jianfang(Department of Pathology,Hospital of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China;Genetic Skin Disease Center,Hospital of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China)

机构地区：[1]中国医学科学院、北京协和医学院皮肤病医院病理科,南京210042 [2]中国医学科学院、北京协和医学院皮肤病医院遗传病中心,南京210042

出　　处：《中华皮肤科杂志》2021年第3期229-231,共3页Chinese Journal of Dermatology

基　　金：中国医学科学院医学与健康科技创新工程项目(2017-I2M-1-017、2018-I2M-3-006);南京市国家级临床医学中心培育计划项目(2019060001)

摘　　要：目的报道1例重度型单纯型大疱性表皮松解症,并检测其基因突变。方法收集患者及其父母资料和外周血,提取基因组DNA,全外显子组测序筛查患儿致病基因,随后采用Sanger测序对家系成员进行验证。结果患者KRT5基因第7号外显子第1429位碱基发生G→A(c.1429G>A)杂合突变,导致KRT5基因所编码的蛋白第477位谷氨酸转换成赖氨酸(p.Glu477Lys),其父母未发现该突变。结论该例重度型单纯型大疱性表皮松解症患者存在KRT5基因c.1429G>A(p.Glu477Lys)致病突变,属新生突变。Objective To detect genetic mutations in a case of severe epidermolysis bullosa simplex.Methods Clinical data and peripheral blood samples were collected from the patient and her parents,and genomic DNA was extracted.Whole exome sequencing was performed to identify causative gene mutations in the patient,and then Sanger sequencing to verify the mutations among the family members.Results A heterozygous mutation c.1429G>A at position 1429 in exon 7 of the KRT5 gene was identified in the patient,which led to the substitution of glutamic acid by lysine at amino acid position 477(p.Glu477Lys)of keratin 5 encoded by the KRT5 gene.The mutation was not detected in her unaffected parents.Conclusion A causative mutation c.1429G>A(p.Glu477Lys)in the KRT5 gene was identified in the patient with severe epidermolysis bullosa simplex,which was a de novo mutation.

关 键 词：单纯性大疱性表皮松解 DNA突变分析 角蛋白5 KRT5基因 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]