A KERATIN K14 GENE MUTATION IN A JAPANESE PATIENT WITH THE DOWLING-MEARA TYPE OF EPIDERMOLYSIS-BULLOSA SIMPLEX

Epidermolysis bullosa simplex (EBS) is caused by an aberration of the keratin intermediate filaments and recent studies indicated causal mut ations in the keratin K14 and K5 genes. In this study, we examined ker atin K14/5 gene mutation in a Japanese patient with EBS Dowling-Meara (EBSDM). The patient had a C to T transition at the first position of codon 125, which resulted in Arg --> Cys at the N-terminus of the rod domain in the keratin K14 gene. The mutation position described here w as identical to those reported in some other EBSDM patients. Our resul t revealed mutation in the peptide initiating helical structure of ker atin K14 and, together with the results of other workers, suggests tha t the mutation in the keratin K14 gene of EBSDM sufferers occurs in vi rtually every ethnic group and geographical area.