Premium
Seven novel COL 7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico
Author(s) -
Saeidian A. H.,
Youssefian L.,
Moreno Trevino M. G.,
Fortuna G.,
Vahidnezhad H.,
Atanasova V. S.,
Uitto J.,
SalasAlanis J. C.,
South A. P.
Publication year - 2018
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13407
Subject(s) - epidermolysis bullosa , genotyping , dermatology , exon , cohort , genetics , epidermolysis bullosa dystrophica , medicine , mutation , intron , gene , biology , genotype , pathology
Summary 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 COL 7A1 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.