Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma

F. J. D. Smith (Lead / Corresponding author), I. M. Kreuser-Genis, C. S. Jury, N. J. Wilson, A. Terron-Kwiatowski, M. Zamiri

Research output: Contribution to journalArticle

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Abstract

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT1 and KRT10 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 KRT1 mutations. Mutations in KRT1 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.

Original languageEnglish
Number of pages7
JournalClinical and Experimental Dermatology
Early online date4 Oct 2018
DOIs
Publication statusE-pub ahead of print - 4 Oct 2018

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Keratoderma, Palmoplantar, Epidermolytic
Epidermolytic Hyperkeratosis
Keratin-1
Palmoplantar Keratoderma
Mutation
Exfoliative Dermatitis
Ichthyosis
Phenotype
Inborn Genetic Diseases
Keratins
Genes
Genotype
Skin

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Smith, F. J. D. ; Kreuser-Genis, I. M. ; Jury, C. S. ; Wilson, N. J. ; Terron-Kwiatowski, A. ; Zamiri, M. / Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. In: Clinical and Experimental Dermatology. 2018.
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abstract = "Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT1 and KRT10 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 KRT1 mutations. Mutations in KRT1 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.",
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Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. / Smith, F. J. D. (Lead / Corresponding author); Kreuser-Genis, I. M.; Jury, C. S.; Wilson, N. J.; Terron-Kwiatowski, A.; Zamiri, M.

In: Clinical and Experimental Dermatology, 04.10.2018.

Research output: Contribution to journalArticle

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