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Hypertrophic Cardiomyopathy (Sphynx Type Risk Factor) (Feline)

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Test Overview:

Test all breeding Sphynx cats for the ALMS1 mutation. Cats testing negative can be bred without restriction. Cats testing heterozygous (one copy) should be bred carefully: Avoid breeding two heterozygous cats to prevent homozygous kittens, which may be at higher risk. Breed heterozygous cats to negative cats and screen offspring. Cats testing homozygous (two copies) should not be bred to reduce mutation frequency. Disclosure of test results to breeders and buyers is important for informed, responsible breeding.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

ALMS1

Variant Detected:

c.7384G>C

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

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Hypertrophic Cardiomyopathy.

Research Citation(s):

Meurs, K.M., Williams, B.G., DeProspero, D., Friedenberg, S.G., Malarkey, D.E., Ezzell, J.A., Keene, B.W., Adin, D.B., DeFrancesco, T.C., Tou, S. : A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992

Associated Breed(s):

Sphynx,
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