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