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Cat Gangliosidosis 2 (GM2) - Burmese Type
| Acronym: | GM2 |
| Gene: | HEXB |
| Mutation: | c.1244-8_1250del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Cat Gangliosidosis 2 (GM2) is a fatal, progressive neuronopathic lysosomal storage disease resulting from a deficiency of b-N-acetylhexosaminidase activity. GM2 gangliosidosis occurs with varying degrees of severity in cats. Kittens show typical cerebellar signs at approximately 2 months of age. About 2 months later, they progressively show other neurological signs and subsequently die at about 7 months of age. Magnetic resonance imaging shows an enlarged ventricular system, T1 hyperintensity in the internal capsule, and T2 hyperintensity in the white matter of the whole brain.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Bradbury, A.M., Morrison, N.E., Hwang, M., Cox, N.R., Baker, H.J., and Martin, D.R. (2009). Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol. Genet. Metab. 97, 53–59.
Hasegawa, D., Yamato, O., Kobayashi, M., Fujita, M., Nakamura, S., Takahashi, K., Satoh, H., Shoda, T., Hayashi, D., Yamasaki, M., et al. (2007). Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. Journal of Feline Medicine & Surgery 9, 232–237.
Martin, DR. (2005). Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol. 110(5):443-50.