Abstract: Objective: To detect the mutations of the KRT9 gene in a Chinese family with epidermolytic palmoplantar keratoderma (EPPK). Methods: Clinical data and blood samples were collected from the proband of the pedigree with EPPK and their family members. PCR was performed to amplify all coding exons and their flanking sequences of KRT9 gene followed by direct DNA sequencing. 100 unrelated healthy persons served as the controls. The function of the protein encoded by the KRT9 gene was predicted. Results: A missense mutation of c.482A>G (p.Asn161Ser) was identified in all the five affected individuals in the pedigree, but not in unaffected individuals and 100 healthy controls. The mutation was pridicted to be detrimental variation by SIFT and Polyphen-2 software. Conclusion: The mutation of c.482A>G(p.Asn161Ser) in KRT9 gene may be responsible for the phenotype of EPPK in this pedigree.

Key words: epidermolytic palmoplantar keratoderma, KRT9 gene, mutation