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GM2 Gangliosidosis, Type II

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Test Overview:

GM2 Gangliosidosis Type II is an inherited lysosomal storage disease. It causes an accumulation of GM2 ganglioside-glycolipid in multiple body tissues. Signs may consists of head tremors, ataxia and small growth of affected puppies. Later signs can include poor movement, inability to eat and body tremors. This disease can usually lead to death or indicated euthanasia.

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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