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Gangliosidosis (GM2 Type II) – Burmese

Code: K383

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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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

Burmese
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

  • 15 working days