Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.
Thi Huyen Thuong MaThi Lan Anh LuongThu Lan HoangThi Thanh Hoa NguyenThi Ha VuVan Khoa TranDuy Bac NguyenTien Sang TrieuNguyen Hai HaNong Van HaiNguyen Dang TonPublished in: Molecular genetics & genomic medicine (2021)
Our finding expands the spectrum of COL7A1 mutations and reports altered splicing at c.4518+2delT during the processing of the pre-mRNA. This study provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes of EB patients.