Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

A. H. Saeidian, L. Youssefian, M. G. Moreno Trevino, G. Fortuna, H. Vahidnezhad, V. S. Atanasova, J. Uitto, J. C. Salas-Alanis, A. P. South*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    8 Citations (Scopus)

    Abstract

    Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading frame or adjacent exon–intron boundaries of COL7A1 have been described. We used targeted next-generation sequencing to identify seven previously unreported mutations in a cohort of 17 Mexican patients who were diagnosed with RDEB based on clinical presentation and immunoepitope mapping. Our study expands the spectrum of mutations identified in this cohort, including those suitable for emerging therapies reliant on precise genotyping.

    Original languageEnglish
    Pages (from-to)579-584
    Number of pages6
    JournalClinical and Experimental Dermatology
    Volume43
    Issue number5
    DOIs
    Publication statusPublished - 1 Jul 2018

    Bibliographical note

    Publisher Copyright:
    © 2018 British Association of Dermatologists

    All Science Journal Classification (ASJC) codes

    • Dermatology

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