Novel keratin 17 mutations in pachyonychia congenita type 2

Frances Smith, Carrie M. Coleman, Nagy M. Bayoumy, Romano Tenconi, John Nelson, Albert David, Irwin McLean

    Research output: Contribution to journalArticlepeer-review

    17 Citations (Scopus)

    Abstract

    Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.
    Original languageEnglish
    Pages (from-to)806-808
    Number of pages3
    JournalJournal of Investigative Dermatology
    Volume116
    Issue number5
    DOIs
    Publication statusPublished - 2001

    Keywords

    • Genetics
    • Genodermatosis
    • Intermediate filaments
    • Keratinizing disorder
    • Mutation

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