Dystrophic epidermolysis bullosa (DEB)
Dystrophic epidermolysis bullosa (DEB)
General description
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.
Breeds
Central Asia Shepherd Dog
Order details
| Test number | 8643 |
| Abbreviation | DEB |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | from birth - early puppyhood |
| Causality | causally |
| Gene | COL7A1 |
| Mutation | C-T |
| Literature | OMIA:000341-9615 |
Detailed description
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.
