Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa

Abstract

Junctional epidermolysis bullosa (JEB) is caused by mutations in genes encoding adhesion proteins, such as laminin 332, type XVII collagen (COL17), integrin α6β4, or integrin α3. The absence of COL17 leads to intermediate JEB that manifests with generalized skin blisters, chronic wounds, hair loss, nail loss or dystrophy, and enamel hypoplasia (Has et al., 2020). There is no cure, and no experimental therapy has been developed for JEB with COL17 deficiency (Prodinger et al., 2020). About 20% of the COL17A1 pathogenic variants are nonsense mutations leading to the absence of COL17.