中国麻风皮肤病杂志 ›› 2021, Vol. 37 ›› Issue (8): 486-489.doi: 10.12144/zgmfskin202108486

• 论著 • 上一篇    下一篇

反常性痤疮一家系NCSTN基因新致病突变报道

缪梦宇1,2,王真真2,孙乐乐2,刘红2,张福仁2   

  1. 1滨州医学院，山东烟台，264003；
    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:2021-08-15 发布日期:2021-07-20
  • 通讯作者: 刘红，E-mail: hongyue2519@hotmail.com

One novel mutation of the NCSTN gene in one acne inversa family

MIAO Mengyu1,2, WANG Zhenzhen2, SUN Lele2, LIU Hong2, ZHANG Furen2   

  1. 1 Binzhou Medical University, Yantai 264003, China; 2 Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology，Shandong First Medical University, Jinan 250022, China 
  • Online:2021-08-15 Published:2021-07-20
  • Contact: LIU Hong, E-mail: hongyue2519@hotmail.com

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摘要： 目的：检测反常性痤疮(AI)一家系致病基因及突变位点。方法：该家系中三代4人发病，提取4例患者、9名健康亲属以及100名健康志愿者的外周血DNA；对先证者进行全基因组外显子测序，经生物信息学分析，获得致病变异；而后通过Sanger测序在全部患者、健康亲属及健康对照中进行验证。结果：家族中先证者及其他患者均存在位于NCSTN基因的一个剪接位点突变c.85+2T>C，9名健康亲属和100名健康志愿者未发现该突变，突变与AI疾病符合共分离。结论：本家系中NCSTN突变位点（c.85+2T>C）与反常性痤疮发病相关。

关键词: 反常性痤疮, 外显子测序, NCSTN基因, 新发突变

Abstract: Objective: To identify the gene mutation in a acne inverse (AI) family. Methods: Four patients and 9 healthy members of 3 generations were included in this study. DNA was extracted in peripheral blood samples from patients and healthy members of the family, and 100 healthy controls. The Whole-exome sequencing was performed on peripheral blood samples of the precursors, and the sequencing results were analyzed by bioinformatics to obtain pathogenic candidate mutations. Then the candidate pathogenic genes were amplified by Sanger sequenced to verify the mutations of the candidate genes in other available blood samples. Results: There is a splice site mutation c.85+2T>C in the NCSTN gene in 4 patients which was not found in 9 healthy relatives and 100 healthy controls. Conclusion: NCSTN gene mutation (c.85+2T>C) is associated with AI in this family.

Key words: acne inverse, genome sequencing, NCSTN gene, gene mutation