A novel mutation (c.1966C>T; p. Gln656Ter) in the COL7A1 gene identified in a case of dystrophic epidermolysis bullosa by whole exome sequencing

A novel mutation (c.1966C>T; p. Gln656Ter) in COL7A1 in dystrophic epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is an inherited disorder. It involves a heterogeneous group of the rare genetic dermatoses are characterized by the mucocutaneous brittleness and the blister development, which are often inducible by the minimal trauma. A wide-ranging phenotypic diversity has been defined, with possibly severe extracutaneous appearances, morbidity and the mortality in some cases. In this study, we have documented a case of the EB with a novel variant (c.1966C>T; p. Gln656Ter) in the COL7A1 gene detected by whole exome sequencing. This novel mutation has been authenticated by Sanger sequencing. This case highlights the importance of whole exome sequencing for confirmatory molecular diagnosis and adds a novel variant (c.1966C>T; p. Gln656Ter) to the genotypic spectrum of COL7A1 gene mutations in epidermolysis bullosa.