OMIA 001928-9615 : Myasthenic syndrome, congenital, COLQ-related in Canis lupus familiaris
Sequencing the functional candidate gene COLQ in four affected Golden Retriever puppies from a single breeder enabled Tsai et al. (2020) to identify "a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds."Clinical features: As reported by Rinz et al. (2014): "Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs. A pyridostigmine bromide challenge resulted in worsening of muscle weakness." Breeds: Golden Retriever, Labrador Retriever. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC608697||2-hydroxyacyl-CoA lyase 1||Canis lupus familiaris||23||NC_006605.3 (27069676..27188247)||LOC608697||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Labrador Retriever||Myasthenic syndrome, congenital||LOC608697||missense||c.1010T>C||p.I337T||2014||25166616|
|Golden Retriever||Myasthenic syndrome, congenital, COLQ-related||LOC608697||missense||Boxer reference genome||23||g.27,175,559G>A||c.880G>A||p.(G294R)||2020||31769119|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||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. DOI: 10.1111/jvim.15667.|
|2014||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.|
- Created by Frank Nicholas on 06 Sep 2014
- Changed by Frank Nicholas on 06 Sep 2014
- Changed by Frank Nicholas on 09 Nov 2016
- Changed by Frank Nicholas on 30 Jan 2020