Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Dermatopatias Vesiculobolhosas/genética , Adulto , Vesícula/patologia , Criança , Análise Mutacional de DNA , Epidermólise Bolhosa Distrófica/sangue , Epidermólise Bolhosa Distrófica/patologia , Feminino , Genes Recessivos , Humanos , Masculino , Mutação , Peru/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Dermatopatias Vesiculobolhosas/patologiaRESUMO
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.