Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma

Détails

ID Serval
serval:BIB_7F62F0BFDAB4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma
Périodique
Journal of Investigative Dermatology
Auteur(s)
Rothnagel  J. A., Wojcik  S., Liefer  K. M., Dominey  A. M., Huber  M., Hohl  D., Roop  D. R.
ISSN
0022-202X (Print)
Statut éditorial
Publié
Date de publication
03/1995
Volume
104
Numéro
3
Pages
430-3
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Mar
Résumé
Epidermolytic palmoplantar keratoderma is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles. Ultrastructurally the disease exhibits abnormal keratin filament networks and tonofilament clumping like that found in the keratin disorders of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. The disease has been mapped to chromosome 17q11-q23 in the region of the type 1 keratin gene locus and more recently mutations have been found in the palmoplantar specific keratin, keratin 9. We have analyzed six unrelated incidences of epidermolytic palmoplantar keratoderma for mutations in their keratin 9 genes. In two of these, we have identified mutations that alter critical residues within the highly conserved helix initiation motif at the beginning of the rod domain of keratin 9. In a three-generation Middle Eastern kindred we found a C to T transition at codon 162 that results in an arginine to tryptophan substitution at position 10 of the 1A alpha-helical domain, thus confirming this codon as a hot spot for mutation in keratin 9. The other mutation found involves a T to C transition at codon 167 that results in the expression of a serine residue in place of the normal leucine at position 15 of the 1A segment and is the first documentation of this mutation in this gene. The identification of these substitutions extends the current catalog of disease causing mutations in keratin 9.
Mots-clé
Base Sequence Female Humans Keratins/*genetics Keratoderma, Palmoplantar/*genetics Male Molecular Sequence Data *Mutation Pedigree Polymerase Chain Reaction/methods Sequence Analysis, DNA
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:36
Dernière modification de la notice
08/05/2019 21:03
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