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Ehlers-Danlos Syndrome (Labrador Type)

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Test Overview:

Test all breeding Labrador Retrievers for the COL5A1 EDS variants. Avoid breeding dogs carrying the mutation to prevent affected puppies. Use genetic test results to plan matings with clear dogs only. Preserve genetic diversity while managing disease risk.

Category:

Dermatologic - Associated with the skin

Gene:

COL5A1, chr9

Variant Detected:

frameshift deletion mutation c.3038delG (p.Gly1013ValfsTer260).

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 1).

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 Cobberdog, Australian Labradoodle , Cavador, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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