GM2 gangliosidosis type II / Sandhoff disease (HEXB-related) - Burmese

GM2 gangliosidosis type II in the Burmese cat

This genetic test analyses the HEXB variant c.1244-8_1250del15 that can cause GM2 gangliosidosis type II in the Burmese cat. This disorder is also known as Sandhoff disease, GM2 gangliosidosis variant 0 or Sandhoff-type GM2 gangliosidosis.

HEXB encodes the beta subunit of beta-hexosaminidase. When enzyme function is severely reduced, GM2 gangliosides accumulate in nerve cells. This leads to a progressive neurological disease that is usually noticeable at a young age.

What does this mean for the cat?

Affected cats can gradually lose coordination, develop tremors, become weaker, show abnormal movement and develop vision or behavioural problems. The disorder is severe and progressive, making genetic identification highly valuable in breeding lines.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested HEXB variant.
• Helps breeders identify carriers before they are used in breeding combinations.
• Supports avoiding matings where kittens could inherit two copies of the same recessive variant.
• Provides clear genetic information for cats from risk lines or related populations.

GM2 gangliosidosis type II follows an autosomal recessive mode of inheritance. Carriers are generally not affected themselves, but two carriers can produce affected kittens.