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Gangliosidosis GM2 HEXB (Shiba Inu Type)

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Test Overview:

Genetic testing for the HEXB mutation is essential for breeding Shiba Inus. Carriers should not be bred to other carriers to prevent affected puppies. Testing and informed breeding can reduce the prevalence of this fatal disease in the breed population.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HEXB

Variant Detected:

c.849_851delCCT

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 of the HEXA gene will reliably determine if a dog is a genetic carrier of GM2 Gangliosidosis (Shibu Inu Type).

Research Citation(s):

J Vet Intern Med. 2017 Sep;31(5):1520-1526 Wang P, Henthorn PS, Galban E, Lin G, Takedai T, Casal M. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. J Vet Intern Med. 2018 Jan;32(1):340-347. [PubMed: 29106755]

Associated Breed(s):

Mixed Breed, Shiba Inu,

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