线状汗孔角化症一家系MVD基因突变分析  

Mutation analysis of MVD gene in a family with linear porokeratosis

作　　者：郭芝璇 马坚池[2] 李希清[2] GUO Zhixuan;MA Jianchi;LI Xiqing(Department of Dermatology,The Seventh Affiliated Hospital,Sun Yat-sen University,Shenzhen 518000,China;Department of Dermatology,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510000,China)

机构地区：[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　　处：《中国麻风皮肤病杂志》2024年第10期721-724,共4页China Journal of Leprosy and Skin Diseases

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。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.

关 键 词：线状汗孔角化症 MVD基因 基因突变 二次打击 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]