Gangliosidosis (GM2 Type II) – Burmese
Kodas: K383
Short description
There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease.
General information
There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease. This mutation of gangliosidosis (GM2 Type II) has been found in the β-subunit gene (HEXB), causing a deficiency of β-N-acetylhexosaminidase activity. GM2 is an autosomal recessive disorder.
This variant is for the Burmese cat breed.
Specifications
| Breeds | |
|---|---|
| Gene | HEXB |
| Chromosome | A1 |
| Mutation | c.1244-8_1250del15 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, variant 0; Sandhoff |
Clinical features
Clinical signs appear around 2 months of age and include neurological symptoms such as (severe) muscle tremors and loss of motor control. Therefore, leading to difficulty with coordination and eating and sometimes even to paralysis. The affected Burmese kittens often do not survive longer than 6 months.
References
Pubmed ID: 19231264
Year published: 2009
Omia ID: 1462
Omia variant ID:
Turnaround information
- 10 working days