长岛型掌跖角化病:一例纯合缺失的SERPINB7基因突变  

Nagashima-type palmoplantar keratoderma:a case of homozygous deletion of the SERPINB7 gene mutation

作　　者：孙郅劼 郭韫懿 张丹露 祝英 郭碧蓉 孙忠辉 SUN Zhi-jie;GUO Yun-yi;ZHANG Dan-lu;ZHU Ying;GUO Bi-rong;SUN Zhong-hui(Department of Dermatology, Fengxian Institute of Dermatosis Prevention and Treatment, Shanghai 201408, China;Department of Dermatology,The Third Affiliated Hospital of Anhui Medical University and The First People’s Hospital of Hefei, Anhui, Hefei 230061 China)

机构地区：[1]上海市奉贤区皮肤病防治所皮肤科,上海201408 [2]安徽医科大学第三附属医院暨安徽省合肥市第一人民医院皮肤科,安徽合肥230061

出　　处：《皮肤病与性病》2019年第2期157-159,共3页Dermatology and Venereology

基　　金：皮肤病学教育部重点实验室(安徽医科大学)开放课题基金资助项目(AY2017-1-017);上海市奉贤区科委基金项目(20171003)

摘　　要：目的报道1例长岛型掌跖角化病,确定其致病基因突变。方法在先证者家系调查的基础上,收集家系患者和正常人的血样,并采集正常对照血样100份,采取聚合酶链反应技术对长岛型掌跖角化病致病基因SERPINB7基因进行扩增,并对其产物进行测序。结果先证者存在SERPINB7基因7号外显子的c.650-653delCTGT(p.S217Lfs*7)纯合突变。先证者父母为杂合缺失。结论 SERPINB7基因的c.650-653delCTGT(p.S217Lfs*7)纯合突变是引起患者长岛型掌跖角化病的原因,这是该疾病、该位点作为纯和突变的首次报道。Objective To report a case of Nagashima-type palmoplantar keratoderma (NPPK), and to identify pathogenic mutations in the SERPINB7 gene. Methods On the basis of the family investigation of the proband, the blood samples of the family and normal people were collected, and 100 normal blood samples were also collected. PCR was performed to amplify 8 exons and their flanking sequences of the SERPINB7 gene followed by DNA sequencing. Results The proband had a homozy gous mutation in the SERPINB7 gene c.650-653delCTGT (p.S217Lfs^*7). The proband's parents were heterozygous. Conclusion The homozy gous mutation of c.650-653delCTGT (p.S217Lfs^*7) of SERPINB7 gene is the cause of NPPK in proband. This case is the first report as homozygous c.650-653delCTGT (p.S217Lfs^*7) of SERPINB7gene mutation.

关 键 词：长岛型掌跖角化病 基因 SERPINB7 突变 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]