Conflict of interest: none declared.
Experimental dermatology ● Concise report
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9
Article first published online: 9 FEB 2013
© The Author(s) CED © 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 2, pages 189–192, March 2013
How to Cite
Fuchs-Telem, D., Padalon-Brauch, G., Sarig, O. and Sprecher, E. (2013), Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. Clinical and Experimental Dermatology, 38: 189–192. doi: 10.1111/ced.12059
- Issue published online: 12 FEB 2013
- Article first published online: 9 FEB 2013
- Manuscript Accepted: 3 SEP 2012
Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1. All known mutations in KRT9 have been found in regions of the gene encoding the conserved central α-helix rod domain. In the present study, we investigated the molecular basis of EPPK in a patient of Ashkenazi Jewish origin. The patient was found to carry a novel missense mutation in KRT9, resulting in the substitution of a poorly conserved leucine for valine at position 11 of the amino acid sequence. Despite its unusual location, the mutation was shown to be pathogenic through activation of a cryptic donor splice site, resulting in the deletion of 162 amino acids. The present data indicate the need to screen keratin genes in their entirety, as mutations altering domains of lesser functional importance may exert their deleterious effect at the transcriptional level.