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Dystrophic Epidermolysis Bullosa (Golden Retriever Type)

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Test Overview:

Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. The disease is characterized by blisters and erosions in the oral and esophageal epithelia, together with milia, nails dystrophy and growth retardation. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears.

Category:

Dermatologic - Associated with the skin

Gene:

Collagen type VII alpha 1 chain (COL7A1) Chromosome 20

Variant Detected:

Base Substitution c.5797G>A p.Gly1906Ser

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Baldeschi, C. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. (2003) Hum Mol Genet, 12(15);1897–1905.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Mixed Breed,

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