Fucosidosis
Affected Genes: FUCA1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr2:72236019-72236033: 14 bp deletion GGCGGCGGGGGCCCG
Breed: English Springer Spaniel
General Information: Canine Fucosidosis (CF) is a genetic lysosomal storage disease that primarily affects English Springer Spaniels, resulting from a deficiency of the enzyme alpha-fucosidase. This enzyme is crucial for breaking down complex sugars during normal cellular metabolism. The genetic variant causing CF leads to an accumulation of these sugars in cells, particularly in the nervous system, which impairs normal brain and nervous system function. Affected dogs typically exhibit symptoms between 11 months and 4 years of age, including loss of balance, deafness, changes in temperament, loss of learned skills, blindness, difficulty eating, and weight loss. The disease progresses rapidly once symptoms appear, usually leading to euthanasia within 18 months due to the severe impact on the dog's quality of life.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Canine Fucosidosis (CF) involves screening for mutations in the FUCA1 gene. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.
References:
Holmes NG, Acheson T, Ryder EJ, Binns MM. A PCR-based diagnostic test for fucosidosis in English Springer Spaniels. Vet J. 1998; 155: 113-114 Keller CB, Lamarre J. Inherited lysosomal storage disease in an English springer spaniel. J Am Vet Med Assoc. 1992 200(2):194-195.
Occhiodoro T, Anson DS. Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. Mamm Genome. 1996 7(4):271-274.
Skelly BJ, Sargan DR, Herrtage ME, Winchester BG. The molecular defect underlying canine fucosidosis. J Med Genet. 1996 Apr; 33(4):284-288.
Skelly BJ, Sargan DR, Winchester BG, Smith MO, Herrtage ME, Giger U. Genomic screening for fucosidosis in English Springer Spaniels. Am J Vet Res. 1999 60(6):726-729.
Smith MO, Wenger DA, Hill SL, Matthews J. Fucosidosis in a family of American-bred English Springer Spaniels. J Am Vet Med Assoc. 1996 209(12):2088-2090.