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Junctional Epidermolysis Bullosa

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Test Overview:

Junctional Epidermolysis Bullosa affects dogs and is a hereditary skin disease. Dogs affected by this disease typically present within a few weeks of age with fragile skin that is easily damaged from rubbing or trauma resulting in ulcers and blisters. The areas most prone to blisters are the face, foot pads, and ears. The skin around the toenails may be affected causing them to slough. Additionally, affected dogs can develop blisters and ulcers inside the mouth, throat, and oesophagus. Ulcerations of the skin and mucous membranes are painful and can become infected. Affected dogs will generally be smaller than their littermates, which is likely due to their difficulties eating. Affected dogs are often euthanised within a few months of age due to poor quality of life.

Category:

Dermatologic - Associated with the skin

Gene:

LAMB3

Variant Detected:

chr7:8075232 (canFam4): A/G

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 LAMB3 gene will reliably determine if a dog is a genetic carrier of Junctional Epidermolysis Bullosa.

Research Citation(s):

Kiener S, Laprais A, Mauldin EA, Jagannathan V, Olivry T, Leeb T. LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. Genes (Basel). 2020 Sep 7;11(9):1055. [PubMed: 32906717]

Associated Breed(s):

Mixed Breed,
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