Dystrophic epidermolysis bullosa (DEB)

LABOKLIN Service ID: 8643

Epidermolysis bullosa is characterised by blisters in the dermal-epidermal junction. In the case of dystrophic epidermolysis bullosa (DEB) the cleavage is located below the lamina densa. In the breed Central Asian Shepherd, a severe form has been observed that is inherited in an autosomal recessive manner. The disease is caused by a nonsense mutation in the COL7A1 gene which encodes for the collagen VII protein located in epithelial tissues. The disease onset varies between birth and early infancy. Affected puppies show skin lesions, blisters and ulcers on feet, ears, muzzle and oral mucosa. Affected dogs were euthanized due to a poor prognosis.

Method	sequencing
Breed list	Central Asia Shepherd Dog
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab