Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.

@article{Klingberg2000PrenatalDO,
  title={Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.},
  author={Sandra Klingberg and R J Mortimore and Jennifer Parkes and J E Chick and Alan E Clague and D{\'e}d{\'e}e Murrell and David Weedon and Ian A Glass},
  journal={Prenatal diagnosis},
  year={2000},
  volume={20 8},
  pages={
          618-22
        }
}
We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skin from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. DNA analysis of COL7A1, the… CONTINUE READING