Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis

Haihui Liao, Alex J. Waters, David R. Goudie, David A. Aitken, Gordon Graham, Frances J. D. Smith, Sue Lewis-Jones, W. H. Irwin McLean

    Research output: Contribution to journalArticlepeer-review

    42 Citations (Scopus)

    Abstract

    Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.
    Original languageEnglish
    Pages (from-to)2795-2798
    Number of pages4
    JournalJournal of Investigative Dermatology
    Volume127
    Issue number12
    DOIs
    Publication statusPublished - Dec 2007

    Keywords

    • Base Sequence
    • Cell Differentiation
    • Child
    • Epidermis
    • Family Health
    • Female
    • Humans
    • Ichthyosis, X-Linked
    • Intermediate Filament Proteins
    • Male
    • Models, Genetic
    • Molecular Sequence Data
    • Mutation
    • Mutation, Missense
    • Phenotype

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