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Congenital Myasthenic Syndrome

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Test Overview:

Genetic testing of breeding cats is strongly recommended to identify carriers. Avoid breeding carrier × carrier to prevent producing affected kittens. Carrier × clear (non-carrier) matings are acceptable; 50% of offspring become carriers, 50% clear. Affected cats should not be bred. Gradual reduction of mutation frequency through selective breeding while preserving breed genetic diversity.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

COLQ

Variant Detected:

c.1190G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Abitbol M, Hitte C, Boss\u00e9 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. 2015 Sep 1;10(9):e0137019. PubMed PMID: 26327126 PubMed: 26327126 Gandolfi B, Grahn RA, Creighton EK, Williams DC, Dickinson PJ, Sturges BK, Guo LT, Shelton GD, Leegwater PA, Longeri M, Malik R, Lyons LA. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet. 2015 Dec;46(6):711-5. PubMed PMID: 26374066 PubMed: 26374066

Associated Breed(s):

Devon Rex, Elf Cat, Sphynx,
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