
Testing of cats: Muscular dystrophy
Related tests
- Combination Sphynx Muscular dystrophy + Hypotrichosis in Sphynx + Hypokalemia + Blood Group DNA test + HCM4
Muscular dystrophy - dystroglycanopathy in Devon Rex and Sphynx breeds
Dystroglycanopathy is a disease characterized by a deficiency of alpha-dystroglycan, a protein that links the extracellular matrix to intracellular actin filaments to provide structural integrity in muscle tissues. Alpha-dystroglycan is most abundant in muscle but is also found in nerve cells, epithelia, eye cells and other organs. Dystroglycanopathy thus manifests itself not only in muscular dystrophy (muscle weakness affecting mainly the limb plexuses), but also in nervous system disorders and eye malformations.
The disease is caused by a missense mutation c.1190G>A in the COLQ 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 kittens.
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References:
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
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