New Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen.

Abstract

Here we described two unrelated cases of a new pathogenic variant in COL7A1, the deletion c.2588-3_2588delCAGC. The variant causes alternative splicing in the preceding exon and results in truncation of fibronectin III (FN-III) like domain of C7. This new variant is distinct from previously documented variants as it does not completely exclude exon 19, restores open reading frame of COL7A1 and results in a less severe form of RDEB intermediate.