A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads


  • Yong Lu was a master's degree candidate at the institute, and now is at the Development Biology Laboratory of Shanghai.


Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom—knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9. © 2003 Wiley-Liss, Inc.