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GM1 Gangliosidosis (Alaskan Husky Type)

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Test Overview:

Genetic testing for the GLB1 gene duplication mutation is recommended for Alaskan Huskies and breeds at risk. Affected dogs (two copies of mutation) should not be bred. Carriers (one mutation) should only be bred to genetically clear dogs to avoid affected offspring. Avoid breeding two carriers together due to a 25% risk of affected puppies. Sharing genetic testing results among breeders promotes responsible breeding and reduces disease frequency.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GLB1

Variant Detected:

chr23:3796356-3796374 (canFam3): 19 bp duplication (dup TCCCAGACTTGCCCCAGGA)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the GLB1 gene will reliably determine if a dog is a genetic carrier of GM1 gangliosidosis (Alaskan husky type).

Research Citation(s):

Kreutzer R, Kreutzer M, Sewell AC, Techangamsuawn S, Leeb T, Baumgartner W. Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochim Biophys Acta. 2009 Oct;1792(10):982-7. [PubMed: 19607915] Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics. 2005 Aug; 170(4):1857-61. [PubMed: 15944348] Muller G, Alldinger S, Moritz A, Zurbriggen A, Kirchhof N, Sewell A, Baumgartner W. GM-1-gangliosidosis in Alaskan Huskies: Clinical and pathological findings. Vet Pathol. 2001 May;38(3):281-90. [PubMed: 11355658]

Associated Breed(s):

Alaskan Husky, Pomsky,

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