Novel mutations in DSG1 causing striate palmoplantar keratoderma

Background. Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. Methods. Three families with nine affected members were assessed using a candidate gene-based screening approach. Results. In all three families, new heterozygous mutations were found in DSG1. Conclusion. Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haplo-insufficiency for DSG1.