Sequence analysis of the GJB2 gene indicated that 51 patients carried two confirmed pathogenic mutations, and 1 patient had an R75W mutation, which has been reported to cause autosomal dominant syndromic deafness with palmoplantar keratoderma [44] (Table 1). The gene discussed is GJB2; the disease is epidermolytic palmoplantar keratoderma, 1.