线状汗孔角化症一家系MVD基因突变分析

doi:10.12144/zgmfskin202410721

China Journal of Leprosy and Skin Diseases ›› 2024, Vol. 40 ›› Issue (10): 721-724.doi: 10.12144/zgmfskin202410721

• Clinical Researches • Previous Articles Next Articles

Mutation analysis of MVD gene in a family with linear porokeratosis

GUO Zhixuan¹, MA Jianchi², LI Xiqing²

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

Abstract

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

GUO Zhixuan, MA Jianchi, LI Xiqing. Mutation analysis of MVD gene in a family with linear porokeratosis[J].China Journal of Leprosy and Skin Diseases, 2024, 40(10): 721-724.

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Mutation analysis of MVD gene in a family with linear porokeratosis

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