Conflict of interest: none declared.
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family
Article first published online: 14 MAR 2007
© 2007 The Author(s). Journal compilation © 2007 Blackwell Publishing Ltd
Clinical and Experimental Dermatology
Volume 34, Issue 1, pages 26–28, January 2009
How to Cite
Li, M., Yang, L.J., Hua, H.-K., Zhu, X.-H. and Dai, X.-Y. (2009), Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. Clinical and Experimental Dermatology, 34: 26–28. doi: 10.1111/j.1365-2230.2007.02384.x
- Issue published online: 8 DEC 2008
- Article first published online: 14 MAR 2007
- Accepted for publication 2 November 2006
Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide TC transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.