Affected Gene: HEXA
Inheritance: Autosomal Recessive
Mutation: CanFam3.1  chr30 g.35841247C>T c.967G>A
OMIA link: 001461-9615

Appropriate breeds for testing: Japanese Chin

Symptoms:
GM2 gangliosidosis is a member of the lysosomal storage diseases characterized by accumulation of GM2 ganglioside and glycolipids primarily in neurons. Symptoms of the disease, such as loss of balance, mental status, and vision loss, begin around 15-18 months of age. The progression of the disease is rapid and dogs usually die within months of the onset of symptoms.

References:
Sanders DN, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML, Platt SR, O'Brien DP. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab. 2013 Jan;108(1):70-5. doi: 10.1016/j.ymgme.2012.11.008