Dystrophic Epidermolysis Bullosa in Golden Retrievers

This is a hereditary skin disease characterized by the formation of blisters, abrasions, and scars all over the body. The skin is fragile, cornified and hard in places, and very susceptible to damage. Symptoms appear in new-born or very young puppies.

The disease in Golden Retrievers is caused by a missense mutation (c.5716G>A) in the COL7A1 gene, which encodes type VII collagen. This is normally found in the skin between the epidermis and dermis layers and helps the cohesion of these layers.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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Reference:

Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.