A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

Conflicts of interest: None declared. Dystrophic epidermolysis bullosa (DEB) is characterized clinically by mucocutaneous blistering in response to minor trauma, followed by scarring and nail dystrophy, and shows blister formation beneath the epidermal lamina densa at the level of the anchoring fibrils. It occurs in autosomal dominant (DDEB) and recessive (RDEB) forms, each form comprising different subtypes with variable clinical presentation and severity.1 Based on the genetic background, both DDEB and RDEB are caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils.1 Examination of the COL7A1 mutations in DEB has so far disclosed certain genotype–phenotype correlations.2 Patients with DDEB usually harbour glycine substitution mutations within the collagenous domain on one COL7A1 allele, leading to disruptions in anchoring fibril assembly and relatively mild clinical features. This study describes the first indel (insertion/deletion) mutation3 in the COL7A1 gene that causes a clinical DDEB phenotype.