A novel frameshift mutation of COL7A1 in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa

Abstract

Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by extremely fragile skin and mucus membranes that blister following minor trauma with scarring and nail dystrophy. The three most common subtypes of epidermolysis bullosa are simplex, junctional, and dystrophic based on the level of tissue separation and site of blister formation. DEB is caused by mutations in COL7A1 gene, which encodes collagen type VII and is transmitted either in dominant or recessive mode. The diagnosis of DEB is based on the characteristic clinical features confirmed histopathologically. Patient and methods The author report a new case of recessive DEB presenting with severe blistering studied through whole exome sequencing. Results Whole exome sequencing revealed a novel homozygous single-base deletion (R2024Gfs*182) in COL7A1 gene. Both parents were confirmed heterozygotes for the mutation by Sanger sequencing. Conclusion Apart from adding a novel frameshift collagen VII deletion mutation to the repertoire of known mutations in the disease, to the best of our knowledge, this is the second report of genetically characterized patients of DEB from Egypt.