COL7A1基因双杂合突变致母子同患胫前型显性营养不良型大疱性表皮松解症的研究  

Compound Heterozygous Variation of COL7A1 Gene in Mother and Child Both Suffering from Pretibial Dominant Dystrophy Epidermolysis Bullosa

作　　者：廉佳[1] 王莹[1] 林杨杨[1] 李钦峰[1] Lian Jia;Wang Ying;Lin Yangyang;Li Qinfeng(Tianjin Children′s Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院,天津300074

出　　处：《中国中西医结合皮肤性病学杂志》2022年第6期481-484,共4页Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine

基　　金：天津市卫生健康委员会科技项目(编号:ZC20062);天津市卫生健康委员会科技项目(编号:RC20125)。

摘　　要：目的探讨母子同患胫前型营养不良型大疱性表皮松解症(DEB)的基因分型情况。方法对母子同患胫前型DEB进行病历资料以及基因分析,应用第二代高通量测序技术对先证者进行医学全外显子组检测,并用Sanger测序进行验证。结果先证者及其母亲74号外显子上COL7A1基因存在c.6181-1_6197dup与c.6199G>A双杂合突变;结合先证者临床表现、家系调查及基因检测结果,诊断为胫前型显性DEB。结论74号外显子上COL7A1基因的c.6181-1_6197dup与c.6199G>A这个双杂合突变可致胫前型显性DEB,扩展了COL7A1基因突变数据库。Objective In order to investigate the genealogical genotyping of pretibial dystrophic epidermolysis bullosa,which mother and son has similar clinical features.Methods The medical records and genetic analyses of the mother and son with pretibial dystrophy-type epidermolysis bullosa were performed.The second-generation high-throughput sequencing technology was used to perform medical whole-exome detection of the proband,and Sanger sequencing was performed authenticating.Results There were two compound heterozygous variants of c.6181-1_6197dup and c.6199G>A in the COL7A1 gene on exon 74 of the proband and his mother;combined with the patient's clinical manifestations,family investigation and genetic test results,it was diagnosed as pretibial dominant dystrophic epidermolysis bullosa.Conclusion The two compound heterozygous variants of c.6181-1_6197dup and c.6199G>A in the COL7A1 gene in exon 74 can lead to pretibial dominant dystrophic epidermolysis bullosa and extend the COL7A1 gene mutation database.

关 键 词：胫前型 大疱性表皮松解症 营养不良型 COL7A1基因 基因分型 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]