RDEB is an autosomal recessive skin disease characterized by unremitting blistering occurring with minimal trauma and profound scarring that leads to loss of mobility severe malnutrition. caused mutations in the COL7A1 gene encoding type VII collagen (COL7). Almost 30% patients carry at least one nonsense mutation leading premature termination codons (PTCs) (deb-central.org). Currently there a ...

Bi-allelic frameshift mutations leading to PTC in COL7A1 are frequent causal of recessive dystrophic epidermolysis bullosa (RDEB). Several studies including ours showed that exons encoding the collagenous domain type VII collagen (C7) could be therapeutically skippable without apparent functional consequences for protein function. However, long-term vivo phenotypic targeted exon deletion and co...