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A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma
V A Morgan1, K Byron, L Paiman
1Department of Dermatology, Royal Children's Hospital, Melbourne, Australia.
The Australasian Journal of Dermatology
|November 26, 1999
Abstract:
Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helical rod domain of keratin 9. This provides further evidence that this codon is an important spot for mutation in keratin 9.