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GM2 Gangliosidosis, Type II

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Test Overview:

Genetic testing for the HEXB gene mutation should be done for all breeding cats, especially in breeds prone to this disease (including Burmese and Domestic Shorthair lines). Avoid breeding two carrier cats together, since 25% of their kittens may inherit two copies of the mutation and be affected. Carriers (cats with one copy of the mutation) can be safely bred with clear cats (no copies) to prevent producing affected kittens. Cats affected with two copies of the mutation should never be bred. Share testing results openly among breeders and buyers to enable responsible breeding decisions.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HEXB

Variant Detected:

c.618_620delCCT

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 dog is a carrier of GM2 Gangliosidosis, Type II.

Research Citation(s):

Kolicheski, A., Johnson, G.S., Villani, N.A., O'Brien, D.P., Mhlanga-Mutangadura, T., Wenger, D.A., Mikoloski, K., Eagleson, J.S., Taylor, J.F., Schnabel, R.D., Katz, M.L., Kolicheski, A., Johnson, G.S., Villani, N.A., O'Brien, D.P., Mhlanga-Mutangadura, T., Wenger, D.A., Mikoloski, K., Eagleson, J.S., Taylor, J.F., Schnabel, R.D., Katz, M.L. : GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. J Vet Intern Med 31:1520-1526, 2017. Pubmed reference: 28833537.

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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