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Dog Fucosidosis (FUCA)
| Acronym: | FUCA |
| Gene: | FUCA1 |
| Mutation: | c.379_392del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog fucosidosis is a lysosomal storage disorder, which affects English Springer Spaniel dogs and is progressive and invariably fatal. The disease is inherited in an autosomal recessive manner. It causes the inability of a dog to produce the enzyme alpha-fucosidase. The enzyme catalyzes the removal of fucose moieties from the oligosaccharide side chains of glycoproteins and glycolipids. Fucosidosis is found in English springer spaniel dogs. Pathology and clinical signs are the results of the lysosomal accumulation of fucose-containing glycoconjugates.’ The central nervous system displays particularly marked storage abnormalities. Heterozygotes are without symptoms and possess fucosidase activities of approximately 50% of the control mean. The disease manifests as a mainly neurological syndrome with mixed motor and mental function deficits including progressive ataxia, proprioceptive difficulties, apparent blindness, change in temperament, dysphagia, dysphonia, and loss of learned behavior. As the disease progresses there is a rapid deterioration in body condition with muscle wasting. Affected dogs die or are euthanased by 3 to 4 years of age. Dogs are clinically normal until 18 months of age and are usually affected between 18 months and 4 years of age.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Skelly, B.J., Sargan, D.R., Herrtage, M.E., and Winchester, B.G. (1996). The molecular defect underlying canine fucosidosis. J Med Genet 33, 284–288.