Testing of dogs: CMS in Golden Retrievers

Usual turnaround time: 12 business days

1 test price: 56.00 $ without VAT

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Combination Golden Retriever 2 vWDI + Epidermolysis bullosa + Osteogenesis imperfecta + DM + CMS in Golden Retrievers

Congenital myasthenic syndrome (CMS) in Golden Retrievers

Congenital myasthenic syndrome is an inherited disease that affects neuromuscular transmission. It is manifested by general weakness of the skeletal muscles, often induces by exercise, and a decrease in spinal reflexes. The first signs are already noticeable in the first weeks to months of the puppy's life. The disease progresses rapidly, and most cases result in death or euthanasia of the affected puppy.

The disease in Golden Retrievers is caused by a missense mutation c.880G>A in the LOC608697 gene.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

Reference:

Tsai, K.L., Vernau, K.M., Winger, K., Zwueste, D.M., Sturges, B.K., Knipe, M., Williams, D.C., Anderson, K.J., Evans, J.M., Guo, L.T., Clark, L.A., Shelton, G.D. : Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med 34:258-265, 2020. Pubmed reference: 31769119

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