Abstract
Mutations in keratin 1 were initially described in the classical form of bullous congenital ichthyosiform erythroderma (also known as epidermolytic hyperkeratosis). More recently the range of phenotypes associated with mutations in this gene has been extended to include annular ichthyosiform erythroderma and mild epidermolytic palmoplantar keratoderma. Here we present two novel mutations in the keratin 1 gene (KRT1): a 5′ donor splice site mutation in exon 1 (591 + 2T > A) that predicts a 22 amino acid in-frame deletion in the keratin 1 1A domain; and an in-frame deletion in exon 7 (1376del24) that predicts a foreshortened 2B coiled-coil domain of keratin 1. In each case these mutations are associated with palmoplantar keratoderma and mild ichthyosis, largely limited to the flexural areas. These mutations appear to have a less damaging effect than previously reported mis-sense mutations sited in the helix boundary motifs. This report extends the range of phenotypes associated with mutations in KRT1.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 966-971 |
| Number of pages | 6 |
| Journal | Journal of Investigative Dermatology |
| Volume | 119 |
| Issue number | 4 |
| DOIs | |
| State | Published - Oct 2002 |
Funding
We would like to thank the patients and their families for participation in this study. Thanks also to Linda Campbell, Molecular Genetics Laboratory, Ninewells University Hospitals NHS Trust for genomic DNA extraction and Andrew J. Cassidy, Molecular Genetics Analysis Facility, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, for DNA sequencing. W.H.I.M. is funded by a Wellcome Trust Senior Research Fellowship and AT was also supported by the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) U.K. (to W.H.I.M.) .
Keywords
- Disorder of keratinization
- Genetics
- Genodermatosis
- Intermediate filaments
- Mutation
ASJC Scopus subject areas
- Dermatology
- Molecular Biology
- Biochemistry
- Cell Biology