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Dystrophic Epidermolysis Bullosa (Basset Hound Type)

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Test Overview:

Dystrophic Epidermolysis Bullosa is an inherited skin disorder identified in a closely related family of Basset hounds. Dogs affected with this disease will usually have skin lesions that resemble blisters or erosions, and are present on their ears, paws pads and muzzle. Additionally, the skin around their toenails may become affected and cause them to slough. The lesions may also develop into mucosa of the mouth, tongue and oesophagus. Dogs affected by this disease usually die or are euthanised within a few days of birth.

Category:

Dermatologic - Associated with the skin

Gene:

COL7A1

Variant Detected:

chr20:40932778-40932891 (canFam4): 107 bp duplication with 7 bp deletion in duplicated region

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the COL7A1 gene will reliably determine if a dog is a genetic carrier of the Dystrophic Epidermolysis Bullosa disorder.

Research Citation(s):

Garcia TM, Kiener S, Jagannathan V, Russell DS, Leeb T. A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Genes (Basel). 2020 Dec 4;11(12):1458. [PubMed: 33291836]

Associated Breed(s):

Basset Hound,

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