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Congenital Myasthenic Syndrome (Labrador Retriever Type)

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Test Overview:

Genetic testing is highly recommended for all breeding Labrador Retrievers. Avoid breeding two carriers to prevent producing affected puppies. Breed carriers exclusively to clear dogs. Do not breed affected dogs. Use testing results and pedigrees to balance reducing mutation frequency while preserving genetic diversity.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

2-hydroxyacyl-CoA lyase 1 (COLQ) on chromosome 23

Variant Detected:

c.1010T>C, p.Ile337Thr

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 (Labrador Retriever Type).

Research Citation(s):

Rinz CJ, Levine J, Minor KM, Humphries HD, Lara R, Starr-Moss AN, Guo LT, Williams DC, Shelton GD, Clark LA. A COLQ missense mutation in Labrador retrievers having congenital myasthenic syndrome. PLoS One. 2014 Aug 28;9(8):e106425. [PubMed: 25166616] Shelton GD. Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review. Neuromuscul Disord. 2016 Jun;26(6):331-4. [PubMed: 27080328]

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Goldendoodle, Labradoodle , Labrador Retriever, Mixed Breed,

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