NOVEL K5 AND K14 MUTATIONS IN GERMAN PATIENTS WITH THE WEBER-COCKAYNEVARIANT OF EPIDERMOLYSIS-BULLOSA SIMPLEX

We report novel keratin 5 and 14 gene mutations in four unrelated Germ an families with the localized subtype of the dominantly inherited bli stering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131 800). The mutations are located in the keratin 14 L12 linker region (D 273G), the keratin 5 L12 linker (M327K and D328H), and the H1 domain o f keratin 5 (P156L). These mutations add to those previously reported and provide further evidence of phenotype-genotype correlations in epi dermolysis bullosa simplex subtypes. The above mutations in mildly aff ected patients underline the relevance of the keratin Linker regions f or the epidermolysis bullosa simplex Weber-Cockayne phenotype and kera tin filament integrity. In addition, they confirm that the gene segmen ts encoding the linker regions represent hotspots for mutations.