Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.

ABSTRACT:

Background

Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma-induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB).

Methods

Whole-exome sequencing (WES) was performed for identifying mutations in six affected individuals of five Vietnamese families.

Results

Three novel variants in total of eight variants were found in five families. The first novel variant causing glycine substitution (c.8279G>A, p.G2760E), the remaining two novel variants resulted in splice site affect

SUBMITTER: Ma THT 

PROVIDER: S-EPMC8404230 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature