OMIA 001621-9685 : Muscular dystrophy-dystroglycanopathy (limb-girdle) in Felis catus

In other species: chicken

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603034 (trait) , 603033 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Inheritance: Robinson (1992) provided evidence of autosomal recessive inheritance.

Molecular basis: Martin et al. (2008) reported a deficiency of alpha-dystroglycan in affected cats but could find no causative mutation in the DAG1 gene that encodes this peptide.

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

Variants

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

References


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.

Edit History


  • Created by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 25 Aug 2013
  • Changed by Frank Nicholas on 03 Sep 2015
  • Changed by Frank Nicholas on 21 Jan 2018
  • Changed by Frank Nicholas on 09 Jan 2021