Dystrophic Epidermolysis Bullosa

Abnormal collagen protein leading to separation of the epidermis from the underlying dermis

Symptoms
Blistering and ulcerations of the skin and inside the mouth and in the esophagus, growth retardation, nails dystrophy

Gene involved
COL7A1

Mutation tested
c.5716G>A

Transmission mode : Autosomal recessive

Publication : Niskanen et al. (2017). Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.

Concerned breeds :