Different DNA methylation profile in skin fibroblasts from a discordant monozygotic twin pair provides an epigenetic clue for recessive dystrophic epidermolysis bullosa (RDEB) variability

Recessive dystrophic epidermolysis bullosa (RDEB) is a skin blistering disease due to mutations in the gene coding for type VII collagen (C7). RDEB severity depends from C7 levels; however, identical C7 mutations and/or similar expression levels can result in disease variability, even between monozygotic (MZ) twins. Disease modifying epigenetic mechanisms may account for the observed clinical variability. In this study, we analyzed DNA methylation in skin fibroblasts from a MZ twin pair discordant for RDEB