Gangliosidosis GM2 HEXB (Shiba Inu Type)

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HEXB

Variant Detected:

chr2:56494919-56494921 (canFam4): CCT/-

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,