Reporting COL7A1 gene mutations in five Iranian families with Dystrophic Epidermolysis Bollusa

Dystrophic epidermolysis bullosa (DEB) is a inherited blistering disorder, characterized by affected dermis-epidermis conjunction. COL7A1 encodes collagen VII protein, which is responsible for dermis-epidermis conjunction. We report several mutations of COL7A1 in Iranian families, which result in DEB and expands the mutation spectrum of COL7A1 mutations for further molecular studies