Müller F B, Küster W, Bruckner-Tuderman L, Korge B P
Klinik und Poliklinik für Dermatologie und Venerologie, Universität zu Köln, Germany.
J Invest Dermatol. 1998 Nov;111(5):900-2. doi: 10.1046/j.1523-1747.1998.00374.x.
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.
我们报告了4个不相关的德国家庭中，遗传性大疱性疾病单纯性大疱性表皮松解症Weber-Cockayne型（MIM# 131800）局限性亚型的新型角蛋白5和14基因突变。这些突变分别位于角蛋白14的L12连接区（D273G）、角蛋白5的L12连接区（M327K和D328H）以及角蛋白5的H1结构域（P156L）。这些突变补充了先前报道的突变，并为单纯性大疱性表皮松解症各亚型的表型-基因型相关性提供了进一步证据。轻度受累患者中的上述突变强调了角蛋白连接区对于单纯性大疱性表皮松解症Weber-Cockayne型表型和角蛋白丝完整性的相关性。此外，它们证实编码连接区的基因片段是突变热点。
