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Gangliosidosis (Portuguese Water Dog Type)

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Test Overview:

Because the disease is autosomal recessive, breeders are advised to carry out genetic testing. Mating two carriers leads to a 25% risk of producing affected puppies in each litter. To prevent disease, it is recommended to avoid breeding two carriers. Testing allows informed breeding decisions to reduce or eliminate the disease from the population

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Galactosidase beta 1 (GLB1) on Chromosome 23

Variant Detected:

Base Substitution c.179G>A p.Arg60His

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Wang, ZH. Isolation and characterization of the normal canine ?-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. (2000) J Inherit Metab Dis, 23;593-606.

Associated Breed(s):

Mixed Breed, Porti-Doodle, Portuguese Water Dog,

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