GM2 gangliosidosis is a degenerative, fatal neurological disease characterized by severe muscle tremors and loss of motor control.
Phenotype: GM2 gangliosidosis is characterized by severe muscle tremors and loss of motor control. 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.
Breeds appropriate for testing: Burmese, European Burmese
Explanation of Results:
Cats with N/N genoytpe will not have Burmese GM2 gangliosidosis and cannot transmit this GM2 gangliosidosis variant to their offspring.
Cats with N/GM2 genotype will not have Burmese GM2 gangliosidosis, but are carriers. They will transmit this GM2 gangliosidosis variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% Burmese GM2 gangliosidosis-affected kittens.
Cats with GM2/GM2 genotype will have Burmese GM2 gangliosidosis, a progressive neurological condition.
$40 one test per individual animal
Also available as part of the following packages:
$65 this test + one test from list below
$90 this test + two tests from list below
$115 this test + all tests from list below
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 that perturbs a neuron's ability to remove metabolic waste products from the cell. The accumulation of waste products results in permanent damage. 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. Symptoms are more evident when the kitten has movement with intent as opposed to tremors at rest. Owners may elect for humane euthanasia as the disease is progressive, often culminating in an inability to walk or eat.
GM2 gangliosidosis is inherited as an autosomal recessive disorder and is caused by a 15 base pair deletion in the HEXB gene (chrA1:1415771029del15) which results in aberrant splicing and the production of a non-functional protein. This mutation has been detected in European Burmese cats in at least five countries, including the United States. At the time of publishing, researchers found the carrier frequency for GM2 gangliosidosis to be 14.5% among tested Burmese cats.
Note: 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.
Carrier. Cat has one copy of GM2 Burmese mutation. Breedings between carriers will be expected to produce 25% affected kittens.
Bradbury, A. M., Morrison, N. E., Hwang, M., Cox, N. R., Baker, H. J., & Martin, D. R. (2009). Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminadase β-subunit deficiency. Molecular Genetics and Metabolism, 97(1), 53-59. doi: 10.1016/j.ymgme.2009.01.003