Premium
A novel non‐frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family
Author(s) -
Li C.X.,
Sun S.L.,
Liang J.Y.,
Yuan Y.Q.,
Zhang S.Q.,
Chen P.J.,
Zeng K.,
Xie X.F.,
Zhang X.B.
Publication year - 2017
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.14360
Subject(s) - medicine , dermatology , china , traditional medicine , history , archaeology
Disseminated superficial actinic porokeratosis (DSAP), a genodermatosis transmitted as an autosomal dominant trait featuring disorder of keratinization, is characterized clinically by annular plaques with an atropic center and hyperkeratotic edges.1-4 Recently, Zhang et al. 2 reported MVK mutations in 33% familiar and 16% sporadic patients with DSAP by exome sequencing. Here, we report a single novel mutation of MVK, p.Cys161_Arg176del, in a Chinese family suffering from DSAP. This article is protected by copyright. All rights reserved.