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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 characterised by blisters and erosions in the oral and oesophageal 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. Ulcers of the skin and mucous membranes tend to be painful and can also become infected. Blistering of the skin will usually stop around 8 months of age, however, ulcers of the mouth and oesophagus can persist into adulthood. Dogs who have this disease are often smaller than their other littermates, and is most likely due to their difficulties eating.

Category:

Dermatologic - Associated with the skin

Gene:

Collagen type VII alpha 1 chain (COL7A1) Chromosome 20

Variant Detected:

chr20:40538034 (canFam3): G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the COL7A1 gene will reliably determine if a dog is a genetic carrier of dystrophic epidermolysis bullosa disease.

Research Citation(s):

Baldeschi, C. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. (2003) Hum Mol Genet, 12(15);1897–1905. Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 Aug 1; 12(15):1897-905. [PubMed: 12874109] Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol. 2011 Oct; 131(10):2069-78. [PubMed: 21697889] Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G. Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. J Invest Dermatol. 2000 Jul; 115(1):135-7. [PubMed: 10886525]

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Mixed Breed,

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