Fucosidosis / alpha-fucosidosis (FUCA1-related) - Springer Spaniel

What does this test examine?

This genetic test analyses the FUCA1 variant c.379_392del for fucosidosis / alpha-fucosidosis in the Springer Spaniel. The condition is also known as fucosidosis, alpha-fucosidosis, FUCA1-related lysosomal storage disease and hereditary neurodegenerative storage disease.

What does this disease mean?

Fucosidosis is an inherited lysosomal storage disease. Affected dogs can develop progressive neurological problems such as ataxia, poor coordination, tremors, behavioural changes, reduced vision, swallowing difficulties and increasing weakness.

FUCA1 encodes alpha-L-fucosidase, an enzyme needed to break down specific sugar-containing molecules in lysosomes. The tested deletion causes a frameshift, allowing storage material to accumulate and progressively affect nervous tissue.

Inheritance and result

The condition follows an autosomal recessive inheritance pattern. Dogs with two copies of the tested deletion develop the tested form of fucosidosis. Carriers have one copy, are usually not affected themselves and can pass the variant on.

• Clear: the tested deletion was not detected.
• Carrier: one copy of the deletion was detected.
• Affected: two copies were detected; this genotype causes the tested FUCA1-related fucosidosis.

Practical value of this test

The test helps breeders and owners make a severe recessive neurological disease visible before mating decisions are made. Because carriers can look healthy, DNA testing is especially useful for avoiding risk pairings.

• Supports breeding selection in Springer Spaniel lines.
• Helps identify carriers before they are unknowingly used for breeding.
• Reduces the risk of puppies with progressive neurological disease.
• Provides clear genetic information when neurological signs or relevant family history are present.