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Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x.

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Author information

  • 1Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50931 Cologne, Germany. meral.arin@uk-koeln.de

Abstract

BACKGROUND:

Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants.

OBJECTIVES:

To identify the underlying mutations in patients with EI and to correlate genotype and phenotype.

METHODS:

Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.

RESULTS:

We identified 14 different mutations, of which four have not been published previously.

CONCLUSIONS:

Identification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management.

© 2011 The Authors. BJD © 2011 British Association of Dermatologists.

PMID:
21271994
[PubMed - indexed for MEDLINE]
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