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Mucopolysaccharidosis IIIB (MPS3B) - Schipperke dog Type
| Acronym: | MPS3B |
| Gene: | NAGLU |
| Mutation: | c.2110_2111ins[A[(40_70)];2100_2110] |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Mucopolysaccharidosis (MPS) IIIB is a genetic lysosomal storage disease affecting humans and various animals, including dogs. There are up to 12 individual MPS types described, but the most significant variants in dogs have been identified in the genes associated with MPS I, IIIA, VI and VII. The most affected dog breed is Schipperke dog where the disease is often manifesting as progressive neurological, ocular and musculoskeletal defects at approximately two years of age. MPS IIIB is a consequence of a variant in the alpha-N-acetylglucosaminidase (NAGLU) gene causing a specific glycosaminoglycans accumulate in lysosomes due to various enzyme deficiencies.
This lysosomal storage disorders in Schipperke dogs is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. The disease is often detected at two years of age with a slowly progressive ataxia often leading to euthanasia before six years of age. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
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:
Raj, K., Ellinwood, N. M., & Giger, U. (2020). An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Scientific reports, 10(1), 3170. https://doi.org/10.1038/s41598-020-60121-3