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Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2

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Test Overview:

Test all Labrador Retrievers intended for breeding for the COL5A1 variant. Avoid breeding affected dogs or carriers to prevent passing the mutation. Breeders should aim to only use genetically clear dogs for breeding. Maintain genetic diversity while reducing incidence of EDS.

Category:

Dermatologic - Associated with the skin

Gene:

COL5A1

Variant Detected:

chr9:50891817 (canFam4): 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 Dominant

Recommended Screening:

Genetic testing of the COL5A1 gene will reliably determine if a dog is a genetic carrier of Ehlers-Danlos Syndrome (Labrador Retriever Type, Variant 2).

Research Citation(s):

Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet. 2019 Oct;50(5):543-545. [PubMed: 31294848]

Associated Breed(s):

Australian Labradoodle , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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