全外显子测序协助诊断进行性对称性红斑角皮病一家系  

Whole-exome sequencing assisted diagnosis of a pedigree with progressive symmetric erythrokeratoderma

作　　者：方梦 王真真[2] 赵晴 孙乐乐[2] 薛晓彤 于功奇[2] 刘红[2] 张福仁[1,2] FANG Meng;WANG Zhenzhen;ZHAO Qing;SUN Lele;XUE Xiaotong;YU Gongqi;LIU Hong;ZHANG Furen(Shandong University,Jinan 250012,China;Shandong Provincial Hospital for Skin Diseases&Shandong Provincial Institute of Dermatology and Venerology,Shandong First Medical University&Shandong Academy of Medical Sciences,Jinan 250022,China)

机构地区：[1]山东大学,山东济南250012 [2]山东第一医科大学附属皮肤病医院(山东省皮肤病医院),山东省皮肤病性病防治研究所,山东济南250022

出　　处：《中国麻风皮肤病杂志》2023年第7期493-495,共3页China Journal of Leprosy and Skin Diseases

基　　金：山东省重点研发计划(重大科技创新工程)项目(编号:2021LCZX07);山东省皮肤性病学临床医学研究中心。

摘　　要：目的:报道进行性对称性红斑角皮病一家系,家系中包括3例患者和2名健康成员,涉及三代人。先证者临床上初步诊断为掌跖角皮病,为进一步明确诊断、确定致病突变,对该家系成员进行基因检测。方法:利用全外显子测序确定该家系中患者的致病突变,Sanger测序验证突变的真实性。结果:该家系中致病突变为TRPM4基因上的突变c.3119T>c(p.Ile1040Thr)。结论:根据全外显子测序结果以及家系中患者的临床表现最终诊断为进行性对称性红斑角皮病。Objective:We reported a three-generation pedigree of progressive symmetric erythematous keratoderma which consisted of 3 patients and 2 healthy members.The proband was initially diagnosed with palmoplantar keratoderma clinically.To further clarify the diagnosis and identify the pathogenic mutation,genetic testing was conducted on members of the family.Methods:Whole-exome sequencing was used to determine the pathogenic mutation and Sanger sequencing verified the authenticity of the mutation.Results:The pathogenic mutation in this pedigree was c.3119T>C(p.Ile1040Thr)in TRPM4.Conclusion:The final diagnosis was progressive symmetric erythrokeratoderma based on the result of whole-exome sequencing and the clinical manifestations of the patients in the family.

关 键 词：进行性对称性红斑角皮病 全外显子测序 遗传分析 Sanger测序 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]