A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

Haihui Liao, Yiwei Zhao, David U. Baty, John A. McGrath, Jemima E. Mellerio, W. H. Irwin McLean

    Research output: Contribution to journalArticle

    49 Citations (Scopus)

    Abstract

    Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.
    Original languageEnglish
    Pages (from-to)298-300
    Number of pages3
    JournalJournal of Investigative Dermatology
    Volume127
    Issue number2
    DOIs
    Publication statusPublished - Feb 2007

    Keywords

    • Adult
    • Codon, Terminator
    • Exons
    • Female
    • Frameshift Mutation
    • Gene Deletion
    • Genes, Dominant
    • Heterozygote
    • Humans
    • Hyperpigmentation
    • Keratin-5
    • Protein Structure, Tertiary

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