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Introduction
GM2 gangliosidosis is a degenerative, fatal neurological disease characterized by severe muscle tremors and loss of motor control. In Burmese cats, the disease is caused by a mutation in the feline hexoaminadase β-subunit (HEXB) gene which leads to abnormal swollen neurons and brain lesions. The inherited condition in affected kittens is first observed at 6-8 weeks of age beginning with mild tremors and leading to difficulty eating and lack of coordination. The condition is inherited as a recessive, autosomal disorder.
Procedure for collecting a feline DNA sample
SUBMISSION FORM - Allow 5-10 business days for test results.
Results reportd as:
| Test Result | GM2 Gangliosidosis Status |
|---|---|
| N/N | Normal, cat does not have GM2 mutation* |
| N/GM2 | Carrier, cat has one copy of GM2 mutation. Breedings between carriers will be expected to produce 25% affected kittens. |
| GM2/GM2 | Affected |
* This test is specific for the 15 base pair deletion of HEXB found in Burmese cats and will not detect other HEXB mutations known to exist in other breeds of cats.
References:
Bradbury A.M., N.E Morrison, M. Hwang, N.R. Cox, H.J. Baker, D.R. Martin. Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminadase β-subunit deficiency. Molecular Genetics and Metabolism (2009), doi:10.1016/j.ymgme.2009.01.003