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Hypokalaemia Periodic Polymyopathy - Burmese

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Test Overview:

HPP is caused by a genetic mutation in the WNK4 gene and inherited as an autosomal recessive trait. All breeding cats in Burmese and related breeds should be genetically tested for the WNK4 mutation to identify carriers and affected cats. Cats with two copies of the mutation (affected) will show episodes of muscle weakness and should never be bred. Cats with one copy of the mutation (carriers) do not show symptoms but can pass the mutation to offspring. Avoid breeding two carriers together, as this risks producing 25% affected kittens. Breeding a carrier with a non-carrier produces healthy kittens and helps maintain genetic diversity. Testing and selective breeding can help eradicate the mutation and improve breed health while maintaining diversity. Regular veterinary care and potassium supplementation can manage symptoms in affected cats

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

WNK4

Variant Detected:

c.2899C>T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the WNK4 gene will reliably determine if a cat is a carrier of Hypokalaemia Periodic Polymyopathy.

Research Citation(s):

PLoS One. 2012;7(12):e53173 Gandolfi B, Gruffydd-Jones TJ, Malik R, Cortes A, Jones BR, Helps CR, Prinzenberg EM, Erhardt G, Lyons LA. First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats. PLoS One. 2012;7(12):e53173. PubMed PMID: 23285264 PubMed: 23285264 Malik R, Musca FJ, Gunew MN, Menrath VH, Simpson C, Culvenor J, Grahn RA, Helps C, Lyons LA, Gandolfi B. Periodic hypokalaemic polymyopathy in Burmese and closely related cats: a review including the latest genetic data. J Feline Med Surg. 2015 May;17(5):417-26. PubMed PMID: 25896241 PubMed: 25896241

Associated Breed(s):

Asian, Australian Mist , Bombay, Burmese, Burmilla, Cornish Rex, Devon Rex, Singapura, Sphynx, Tonkinese,
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