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

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.

journal_name

Clin Exp Dermatol

authors

Saeidian AH,Youssefian L,Moreno Trevino MG,Fortuna G,Vahidnezhad H,Atanasova VS,Uitto J,Salas-Alanis JC,South AP

doi

10.1111/ced.13407

subject

Has Abstract

pub_date

2018-07-01 00:00:00

pages

579-584

issue

5

eissn

0307-6938

issn

1365-2230

journal_volume

43

pub_type

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