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Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma
Author(s) -
Smith F. J. D.,
KreuserGenis I. M.,
Jury C. S.,
Wilson N. J.,
TerronKwiatowski A.,
Zamiri M.
Publication year - 2019
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13800
Subject(s) - palmoplantar keratoderma , epidermolytic hyperkeratosis , ichthyosis , biology , genetics , phenotype , keratin , mutation , hyperkeratosis , dermatology , keratoderma , keratin 6a , gene , medicine , intermediate filament , cytoskeleton , cell
Summary Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell‐fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas ( PPK s). Epidermolytic PPK ( EPPK ) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT 1 . Epidermolytic ichthyosis ( EI ), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT 1 and KRT 10 have been described, with PPK being present primarily in association with the former. We report four unrelated cases (one with sporadic EI and three with autosomal dominant PPK ), due to two novel and two recurrent KRT 1 mutations. Mutations in KRT 1 are not only scattered throughout the keratin 1 protein, as opposed to being clustered, but can result in a range of phenotypes as further confirmed by these mutations, giving a complex genotype/phenotype pattern.