OMIA 001621-9685 : Muscular dystrophy-dystroglycanopathy (limb-girdle) in Felis catus
Abitbol et al. (2015) conducted "a genome-wide SNP-based homozygosity mapping strategy" on "two affected Sphynx cats and their relatives", and identified "A homozygous c.1190G>A missense variant located in exon 15 of COLQ, leading to a C397Y substitution" as a likely causal variant.
A few months later, Gandolfi et al. (2015) reported the same likely causal variant: "A genome-wide association study and whole-genome sequencing suggested a causal variant for this entity was a c.1190G>A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C-terminal domain of collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ)".Prevalence: Abitol et al. (2015): "Genotyping of a panel of 333 cats from 14 breeds failed to identify a single carrier in non-Sphynx and non-Devon Rex cats. Finally, the percentage of healthy carriers in a European subpanel of 81 genotyped Sphynx cats was estimated to be low (3.7%) and 14 control Devon Rex cats were genotyped as wild-type individuals."
Gandolfi et al. (2015): "Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COLQ||collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase||Felis catus||C2||NC_018731.3 (135141645..135045497)||COLQ||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Devon Rex Sphynx||Muscular dystrophy-dystroglycanopathy (limb-girdle)||COLQ||missense||Felis_catus_8.0||C2||g.133094150G>A||c.1190G>A||p.(C397Y)||rs869320615||2015||26327126 26374066||Genomic location obtained via Ensembl's VEP|
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.
|2015||Abitbol, M., Hitte, C., Bossé, P., Blanchard-Gutton, N., Thomas, A., Martignat, L., Blot, S., Tiret, L. :|
|A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One 10:e0137019, 2015. Pubmed reference: 26327126. DOI: 10.1371/journal.pone.0137019.|
|Gandolfi, B., Grahn, R.A., Creighton, E.K., Williams, D.C., Dickinson, P.J., Sturges, B.K., Guo, L.T., Shelton, G.D., Leegwater, P.A., Longeri, M., Malik, R., Lyons, L.A. :|
|COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet 46:711-5, 2015. Pubmed reference: 26374066. DOI: 10.1111/age.12350.|
|2008||Martin, P.T., Shelton, G.D., Dickinson, P.J., Sturges, B.K., Xu, R., LeCouteur, R.A., Guo, L.T., Grahn, R.A., Lo, H.P., North, K.N., Malik, R., Engvall, E., Lyons, L.A. :|
|Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscul Disord 18:942-52, 2008. Pubmed reference: 18990577. DOI: 10.1016/j.nmd.2008.08.002.|
|2007||Shelton, G.D., Sturges, B.K., Lyons, L.A., Williams, D.C., Aleman, M., Jiang, Y., Mizisin, A.P. :|
|Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol 114:537-42, 2007. Pubmed reference: 17393175. DOI: 10.1007/s00401-007-0217-6.|
|2005||Shelton, GD., Engvall, E. :|
|Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 15:127-38, 2005. Pubmed reference: 15694134. DOI: 10.1016/j.nmd.2004.10.019.|
|1993||Malik, R., Mepstead, K., Yang, F., Harper, C. :|
|Hereditary Myopathy of Devon Rex Cats Journal of Small Animal Practice 34:539-546, 1993.|
|1992||Robinson, R. :|
|Spasticity in the Devon Rex Cat Veterinary Record 130:302, 1992. Pubmed reference: 1595149.|
|1989||Lievesley, P., Gruffydd-Jones, T. :|
|Episodic collapse and weakness in cats. Veterinary Annual 29:261-269, 1989.|
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