Gangliosidosis type 1 (GM2) in Japanese Chin dog

The inheritance of GM2 follows the autosomal recessive pattern. It means that the disease develops only in dogs that inherit the mutated gene from both parents. Individuals that carry only one copy of the mutated gene do not develop the disease, but they can transfer the mutated gene to their offspring. Therefore, it is important to test the breeding dogs to avoid spreading of the disease in the breed population.

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Reference:

Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. : GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab 108:70-5, 2013. Pubmed reference: 23266199 . DOI: 10.1016/j.ymgme.2012.11.008.