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Congenital Myasthenic Syndrome - COLQ related
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Congenital Myasthenic Syndrome - COLQ related
OMIA
1928
Gene Name
COLQ
Mutation
c.1010T>C
Mutation 2
c.880G>A
Test Type
Genetic Disease/Disorder
Key Comments
Associated with only 1 specific breeding line of Golden Retrievers ? under continued research investigation
Details
Exercise intolerance (temporarily paralyzed), and muscle weakness. Age of onset reported from a few weeks, up to 4 months of age. Considered rare.
Details 2
Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine... Labrador Retriever littermates with an early onset of marked generalized muscle weakness. (Rinz et al, 2014)
Application Information
mutations are breed-specific
Published
Rinz, C.J., Levine, J., Minor, K.M., Humphries, H.D., Lara, R., Starr-Moss, A.N., Guo, L.T., Williams, D.C., Shelton, G.D., Clark, L.A. : A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome. PLoS One 9:e106425, 2014. Pubmed reference: 25166616. DOI: 10.1371/journal.pone.0106425.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Labrador Retriever
Breed-specific 1 Details
Golden Retriever
Breed-specific 2
Test variant should be c.880G>A. Note: In the initial study that identified the causal genetic variant, researchers did not find this variant in other Golden Retrievers, suggesting that it may be limited to a specific line or is at very low frequency in the population. Research to investigate the allele frequency in the Golden Retriever population is on-going at the VGL. Testing for this variant can assist veterinarians with diagnosis and helps breeders identify carriers among breeding stock to select appropriate mates that will reduce the risk of producing affected offspring. To avoid the possibility of producing affected puppies, matings between known carriers should be avoided. Dogs who genotype CMS/CMS should be clinically evaluated. [from VGL, 2020]
