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Congenital Myasthenic Syndrome (Golden Retriever Type)

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Test Overview:

Test all breeding for the COLQ mutation. Avoid breeding two carriers to prevent producing affected puppies. Breed carriers only to clear dogs. Do not breed affected dogs. Use genetic testing results to guide breeding decisions and maintain genetic diversity.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

COLQ

Variant Detected:

chr23:27687716 (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 Recessive

Recommended Screening:

Genetic testing of the COLQ gene will reliably determine if a dog is a genetic carrier of Congenital Myasthenic Syndrome (Golden Retriever Type).

Research Citation(s):

Tsai KL, Vernau KM, Winger K, et al. Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med. 2020;34:258–265. https://doi.org/10.1111/jvim.15667

Associated Breed(s):

Goldador, Golden Retriever, Goldendoodle, Groodle,

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