Abstract: Objective: To detect the mutation of keratin 9 gene (KRT9) in a family with epidermolytic palmoplantar keratoderma (EPPK). Methods: Clinical data and blood samples of patients in the family were collected. Genomic DNA was extracted from the peripheral blood of the family members (including 4 patients and 3 unaffected members) and 50 healthy controls. All the exons of KRT9 gene and their flanking intronic sequences were amplified by PCR and direct sequencing was performed to screen the mutations in gene. Results: A missense mutation of c.484T＞C was found in the patients, but absent in other 3 healthy members of the family and 50 unrelated healthy controls. Conclusion: The missense mutation of KRT9 gene (c.484T＞C; p.S162P) is possible the molecular basis of pathogenesis of EPPK in this family.

Key words: Epidermolytic palmoplantar keratoderma, KRT9 gene, gene mutation