单纯性大疱性表皮松解症Dowling-Meara型中的一种新型角蛋白K5基因突变。

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.

作者信息

Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I

机构信息

Department of Dermatology, Hirosaki University School of Medicine, Japan.

出版信息

J Invest Dermatol. 1996 Aug;107(2):253-4. doi: 10.1111/1523-1747.ep12329741.

DOI:10.1111/1523-1747.ep12329741

PMID:8757772

Abstract

We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Meara epidermolysis bullosa simplex patient with severe generalized blistering and erosions at birth. The patient had a C to T transition at the first position of codon 174 in the keratin K5 gene, which resulted in a Leu->Phe substitution at the highly conserved 1A domain in keratin K5. Thus, our results revealed a novel mutation in the helix initiation peptide of keratin K5.

摘要

我们检测了一名患有严重全身性水疱和出生时糜烂的日本Dowling-Meara单纯性大疱性表皮松解症患者的角蛋白K14和K5基因突变。该患者角蛋白K5基因第174密码子第一位发生了C到T的转换，导致角蛋白K5高度保守的1A结构域出现Leu->Phe替代。因此，我们的结果揭示了角蛋白K5螺旋起始肽中的一个新突变。