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GM2 Gangliosidosis (Burmese Type)

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Test Overview:

Test all breeding cats for the HEXB gene mutation associated with Burmese GM2 Gangliosidosis. Do not breed two carriers together, as 25% of offspring will inherit the disease and be affected. Carrier cats (one copy of the mutation) should only be bred with cats testing clear (no mutation) to prevent affected litters. Cats affected with the disease (two copies of the mutation) should never be bred. Genetic test results should be shared with breeders and buyers to enable responsible decisions.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

HEXB

Variant Detected:

c.1244-8_1250del15; g.chrA1:139630549-139630563

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Bradbury AM, Morrison NE, Hwang M, Cox NR, Baker HJ, Martin DR. Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab. 2009 May;97(1):53-9. PubMed PMID: 19231264 PubMed: 19231264

Associated Breed(s):

Burmese, Burmilla,
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