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

Autor: Saeidian AH; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA., Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA., Moreno Trevino MG; Basic Sciences Department, Medicine School, University of Monterrey, Monterrey, Mexico., Fortuna G; Department of Diagnostic Science, Louisiana State University School of Dentistry, New Orleans, LA, USA., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Atanasova VS; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA., Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA., Salas-Alanis JC; Basic Sciences Department, Medicine School, University of Monterrey, Monterrey, Mexico., South AP; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
Jazyk: angličtina
Zdroj: Clinical and experimental dermatology [Clin Exp Dermatol] 2018 Jul; Vol. 43 (5), pp. 579-584. Date of Electronic Publication: 2018 Feb 23.
DOI: 10.1111/ced.13407
Abstrakt: 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.
(© 2018 British Association of Dermatologists.)
Databáze: MEDLINE
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