Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Abstract

Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome sequencing was performed, followed by validation of locus of mutation using Sanger sequencing. Results Genetic test revealed a missense mutation (c.482A>G, p.Asn161Ser) in exon 1 of the KRT9 gene in the proband and her mother, and no mutation in her father. Conclusion The identified missense mutation (c.482A>G, p.Asn161Ser) in exon 1 of the KRT9 gene is likely the cause of epidermolytic palmoplantar keratoderma in this family.

Keywords

• epidermolytic palmoplantar keratoderma
• gene mutation
• whole exome sequencing
• krt9 gene