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Dystrophic Epidermolysis Bullosa (Golden Retriever Type)

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Test Overview:

Breeders should test all breeding dogs for the COL7A1 mutation. Avoid carrier-to-carrier matings to prevent affected puppies. Breed carriers only to clear dogs and test offspring before future breeding. Maintain genetic diversity while reducing disease frequency through informed breeding decisions.

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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