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GM2 Gangliosidosis (Korat Type)

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Test Overview:

Test all breeding Korat cats for the HEXB gene mutation linked to GM2 gangliosidosis. Do not breed two carriers together, as this risks producing 25% affected kittens with the fatal disease. Carrier cats (one copy of the mutation) can be bred with clear cats (no copies) safely to avoid affected offspring. Cats with two copies of the mutation (affected) should never be bred. Genetic test results should be communicated transparently among breeders and buyers for responsible breeding.

Category:

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

Gene:

HEX B

Variant Detected:

c.39delC

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:

1. Genetic testing of all breeding animals (Korat) prior to entering a breeding program 2. Ensure breeding of clear to clear animals, or carrier to clear animals only.

Research Citation(s):

ASN Neuro. 2015 Mar-Apr; 7(2): 1759091415569908.
Mol Genet Metab. 2009 May;97(1):53-9 http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8178...

Associated Breed(s):

Korat,
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