COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

Conflicts of interest: none declared. Dystrophic epidermolysis bullosa (DEB) is an inherited blistering skin disorder, characterized by mucocutaneous blistering, scarring and nail dystrophy following minor trauma. DEB is caused by mutations in the COL7A1 gene and occurs either as an autosomal dominant (DDEB, MIM 131750) or as a recessive (RDEB, MIM 226600) trait. The phenotypic variability results from the different types of mutations in COL7A1 and their positions within the gene. In most cases, RDEB has a more severe clinical presentation.1 The most severe type of DEB, the recessive Hallopeau–Siemens variant (HS‐RDEB), is caused by the presence of mutations that lead to premature termination codons (PTCs) in both alleles, whereas the autosomal dominant cases are frequently caused by heterozygous glycine substitutions (GSs) within the collagenous triple helix. To date, more than 500 different mutations of COL7A1 have been reported.2 In this study, mutational analysis was performed in 18 distinct Korean families with DEB, and a computational study of each mutation was carried out.