Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex

被引:29
作者
Müller, FB
Küster, W
Bruckner-Tuderman, L
Korge, BP
机构
[1] Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany
[2] TOMESA Fachklin, Bad Salzschlirf, Germany
[3] Univ Munster, Hautklin, D-4400 Munster, Germany
关键词
intermediate filaments; keratin genes;
D O I
10.1046/j.1523-1747.1998.00374.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800). The mutations are located in the keratin 14 L12 linker region (D273G), the keratin 5 L12 linker (M327K and D328H), and the H1 domain of keratin 5 (P156L). These mutations add to those previously reported and provide further evidence of phenotype-genotype correlations in epidermolysis bullosa simplex subtypes. The above mutations in mildly affected patients underline the relevance of the keratin Linker regions for the epidermolysis bullosa simplex Weber-Cockayne phenotype and keratin filament integrity. In addition, they confirm that the gene segments encoding the linker regions represent hotspots for mutations.
引用
收藏
页码:900 / 902
页数:3
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