A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma.
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.
Morgan
V A
VA
Department of Dermatology, Royal Children's Hospital, Melbourne, Australia.
Byron
K
K
Paiman
L
L
Varigos
G A
GA
D002675:Child, Preschool; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D017354:Point Mutation
D007633:Keratins