摘要
目的:单纯性大疱性表皮松解症伴有移行性环状红斑(EBS-Migr)是EBS的一种罕见亚型,是一种常染色体显性遗传病,本文报道一家系,并进行基因检测。方法:收集临床资料,提取患儿及其父母外周血DNA,对患儿及其父母进行全基因组外显子测序,经生物学分析,获得致病变异;再采用Sanger测序法进行验证。结果:患儿及其父亲KRT5外显子9存在杂合突变(移码缺失c.1653_1654delCT),其母亲未发现该突变。结论:该患儿诊断为伴移行性环状红斑的单纯性大疱性表皮松解症,致病机制为KRT5外显子9发生杂合突变(移码缺失c.1653_1654delCT),既往未见报道。
Objective:Epidermolysis bullosa simplex migratory circinate erythema(EBS-Migr)is an uncommon subtype of EBS,is an autosomal-dominant inherited blistering skin disease.We report a family of EBS-Migr and detect the related gene mutations.Methods:Clinical data were collected and peripheral blood DNA of the family was extracted.The Whole-exome sequencing was performed and sequencing results were analyzed by bioinformatics to get pathogenic candidate mutations.Then the Sanger sequencing method was used for verification.Results:The mutation in exon 9(frameshift deletion c.1653_1654delCT)of keratin 5(KRT5)was detected in the proband and her father.Conclusion:KRT5 mutation(frameshift deletion c.1653_1654delCT)may be the cause of EBS-Migr in this family,and the mutation has not been reported.
作者
杨蓓蓓
武卫民
肖华
YANG Beibei;WU Weimin;XIAO Hua(The First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;The First People's Hospital of Chenzou,Chenzhou 423000,China)
出处
《中国麻风皮肤病杂志》
2022年第9期604-606,共3页
China Journal of Leprosy and Skin Diseases
基金
湖南省自然科学基金(编号:2020JJ8004)。
