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

Resultado de la investigación

3 Citas (Scopus)

Resumen

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.

Idioma originalEnglish
Páginas (desde-hasta)579-584
Número de páginas6
PublicaciónClinical and Experimental Dermatology
Volumen43
N.º5
DOI
EstadoPublished - 1 jul 2018

All Science Journal Classification (ASJC) codes

  • Dermatology

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  • Citar esto

    Saeidian, A. H., Youssefian, L., Moreno Trevino, M. G., Fortuna, G., Vahidnezhad, H., Atanasova, V. S., Uitto, J., Salas-Alanis, J. C., & South, A. P. (2018). Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. Clinical and Experimental Dermatology, 43(5), 579-584. https://doi.org/10.1111/ced.13407