Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease

E Rácz, M Csikós, S Kárpáti

    Research output: Contribution to journalArticleAcademicpeer-review

    11 Citations (Scopus)

    Abstract

    Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been identified as possible causative mutations. Studying Hungarian patients with HHD, we found two novel, distinct, heterozygous mutations. In a 65-year-old man with a 41-year history of severe recurrent symptoms, a single nucleotide insertion, 1085insA, was detected. In a patient whose symptoms were induced by environmental contact allergens, we found a nonsense mutation, Q506X, in exon 17. Our study further illustrates the diversity of mutational events in the pathogenesis of HHD.

    Original languageEnglish
    Pages (from-to)575-577
    Number of pages3
    JournalClinical and Experimental Dermatology
    Volume30
    Issue number5
    DOIs
    Publication statusPublished - Sep-2005

    Keywords

    • Aged
    • Base Sequence
    • Calcium-Transporting ATPases/genetics
    • Humans
    • Male
    • Molecular Sequence Data
    • Mutation
    • Pemphigus, Benign Familial/genetics

    Cite this