中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (10): 721-724.doi: 10.12144/zgmfskin202410721

• 临床研究 • 上一篇    下一篇

线状汗孔角化症一家系MVD基因突变分析

郭芝璇1,马坚池2,李希清2   

  1. 1中山大学附属第七医院皮肤科，广东深圳，518000； 2中山大学孙逸仙纪念医院皮肤科，广东广州，510000
  • 出版日期:2024-10-15 发布日期:2024-08-28

Mutation analysis of MVD gene in a family with linear porokeratosis

GUO Zhixuan1, MA Jianchi2, LI Xiqing2   

  1. 1 Department of Dermatology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen 518000, China; 2 Department of Dermatology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510000, China
  • Online:2024-10-15 Published:2024-08-28

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摘要： 本文报道一例线状汗孔角化症，基因检测提示该患者存在种系MVD基因c.683G>A（NM_002461）的杂合突变，其同胞兄弟携带相同的杂合突变但未出现临床表型。这种现象的发生可能因为线状汗孔角化是一种镶嵌性疾病，出生后体细胞的二次打击是发病的关键因素。

关键词: 线状汗孔角化症, MVD基因, 基因突变, 二次打击

Abstract: We report a case of linear porokeratosis (LP). Genetic testing showed that the patient had a heterozygous mutation of c.683G>A (NM_002461) in the MVD gene, and his brother carried the same heterozygous mutation but did not have clinical phenotype. The phenomenon mainly arised from the fact that LP is a Mosaic disease which a postnatal somatic second-hit is a key factor in pathogenesis.

Key words: linear porokeratosis, MVD gene, mutation, second-hit