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A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma
Author(s) -
Morgan Vanessa A,
Byron Keith,
Paiman Lisa,
Varigos George A
Publication year - 1999
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1046/j.1440-0960.1999.00365.x
Subject(s) - keratin , mutation , palmoplantar keratoderma , keratin 6a , epidermolytic hyperkeratosis , genetics , transition (genetics) , gene , medicine , microbiology and biotechnology , biology , intermediate filament , cytoskeleton , cell
SUMMARY 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.