A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa.

ABSTRACT: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern. It has been shown that both forms of dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene. In this study, we investigated a consanguineous four-generation family with two individuals displaying the RDEB phenotype. Both patients showed multiple skin erosions, atrophic scares, crusted scaling, and pseudosyndactyly. Whole exome sequencing (WES) was performed to identify the underlying genetic defect, revealing a homozygous nonsense mutation, c.409C>T (p.Arg137*) in COL7A1 in both patients. This variant was validated through Sanger sequencing and confirme

SUBMITTER: Ayub M 

PROVIDER: S-EPMC11611058 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature