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Cat Gangliosidosis 1 (GM1)
| Acronym: | GM1 |
| Gene: | GLB1 |
| Mutation: | c.1448G>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Cat gangliosidosis 1 (GM1) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the β-galactosidase (GLB1) gene. In general, affected cats manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely at approximately 1 year of age. The carrier frequency is high (16.7%, 38/227) in Korat cats from a number of countries. As one of the large groups of breeds is derived completely, or in part, from Southeast Asian ancestors, GM1 gangliosidosis caused by the same mutation may also occur in those breeds (Oriental Shorthair, Balinese, Havana Brown, Birman, Burmese, Singapura, and others). Thus, as c.1448G>C has possibly spread to related pure-breeds around the world, a PCR-based diagnostic test is important for rapid differential diagnosis in cats suspected of having the disease and/or for genotyping to control and prevent the mutation in pure-breeds related to Siamese and Korat cats.
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:
Uddin, M.M., Tanimoto, T., Yabuki, A., Kotani, T., Kuwamura, M., Chang, H.-S., and Yamato, O. (2012). Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. J. Feline Med. Surg. 14, 900–902.