Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.

Abstract The palmoplantar keratodermas (PPK) are a heterogeneous group of conditions, most frequently inherited in autosomal dominant fashion. A few are well-documented autosomal recessive disorders; other are acquired in association with certain metabolic disorders and malignancies. Recently different point mutations of the keratin 9 (K9) gene have been identified in unrelated families with epidermolytic palmoplantar keratoderma (EPPK). We investigated two unrelated Hungarian families with EPPK. In one, a mutation consisting of a G-->A transversion at nucleotide position 551, which changes codon arginine to glutamine at codon 162 (R162Q), was found. In the other, we observed a novel mutation at nucleotide position 571, which changes codon 169 lysine (AAG) into the amber stop codon (TAG) (K169X). Each found mutation is present in the highly conserved coil 1A region of the rod domain. In the case of a stop codon type of mutation, it is questionable whether it really results in a clinical phenotype, but segregation analysis revealed cosegregation of the PPK phenotype with the mutant allele.