Read-through for nonsense mutations in type XVII collagen deficient junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is caused by mutations in genes encoding adhesion proteins, such as laminin 332, type XVII collagen (C17), integrin α6β4 or integrin α3. Absence of C17 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 C17 deficiency (P rodinger et al., 2020). About 20% of the COL17A1 pathogenic variants are nonsense mutations leading to absence of C17.

Source: Journal of Investigative Dermatology - October 18, 2021 Category: Dermatology Authors: Cristina Has, Saliha Beyza Sayar, Shuangshuang Zheng, Esteban Chac ón-Solano, Irina Condrat, Ayushi Yadav, Michel Roberge, Fernando Larcher Laguzzi Tags: Letters to the Editor Source Type: research