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Fucosidosis (English Springer Spaniel Type)

Fucosidosis (English Springer Spaniel Type)

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Test Overview:

A simple DNA test for the mutant FUCA1 gene is available using a non-invasive cheek swab. Breeders are strongly advised to test all dogs before breeding to avoid carrier × carrier matings. Breeding two carriers risks producing affected puppies (25% per pup), so at least one parent in every mating should be genetically clear. Systematic testing and responsible breeding make complete eradication of fucosidosis from the breed possible, and is considered best practice for English Springer Spaniels

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Alpha-L-fucosidase 1 (FUCA1) on Chromosome 2

Variant Detected:

Nucleotide Deletion Deletion g.chr2:75665866-75665879 (GCGGCGGGGGCCCG)

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

Recommended Screening:

DNA testing of all breeding animals prior to entering breeding programs (e.g. at 1 year of age).

Research Citation(s):

Skelly BJ, et al. The molecular defect underlying canine fucosidosis. (1996) J Med Genet 33;284-288.

Associated Breed(s):

English Springer Spaniel, Mixed Breed,

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