中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (7): 493-495.doi: 10.12144/zgmfskin202307493

• 论著 • 上一篇    下一篇

全外显子测序协助诊断进行性对称性红斑角皮病一家系

方梦1,2,王真真2,赵晴2,孙乐乐2,薛晓彤2,于功奇2,刘红2,张福仁1，2   

  1. 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
  • 出版日期:2023-07-15 发布日期:2023-07-05

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

FANG Meng1,2, WANG Zhenzhen2, ZHAO Qing2, SUN Lele2, XUE Xiaotong2, YU Gongqi2, LIU Hong2, ZHANG Furen1，2   

  1. 1 Shandong University, Jinan 250012, China;
    2 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
  • Online:2023-07-15 Published:2023-07-05

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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。

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

Abstract: 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.

Key words: progressive symmetric erythrokeratoderma, whole-exome sequencing, pedigree analysis, Sanger sequencing