KERATIN-14 GENE-MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX

Mutations in genes encoding the keratin intermediate filaments express ed in basal cells have been identified in some families with epidermol ysis bullosa simplex as the proximate cause of the fragility. We have systematically scanned genomic sequences of one of these keratins, ker atin 14, for mutations in patients from 49 apparently independent kind reds using single-strand conformation polymorphism analysis. The ten m utations identified are clustered at three sites-the ends of the helic es and the L12 linker region, mutation sites that have been identified in past, more Limited studies. Early onset of blistering in these ten families is correlated with more widespread distribution of lesions.