Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma

Background Epidermolytic palmoplantar keratoderma is an autosomal dominant inherited disorder of keratinization. Methods We studied five members of a Jewish family with epidermolytic palmoplantar keratoderma. Genomic DNA was extracted from leucocytes, and exon 1 of the keratin 9 gene was amplified using polymerase chain reaction techniques. Results The mutation was found in exon 1 of the keratin 9 gene in codon 160. Conclusions Like most of the other families with clinical features of epidermolytic palmoplantar keratoderma the mutation is found in exon 1 of the keratin 9 gene.