Mucopolysaccharidosis IIIB (MPS3B) – Schipperke
Kodas: H137
Short description
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
General information
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This test analyses a variant of Mucopolysaccharidosis type IIIB (also called MPS3B or Sanfilippo Syndrome type B) found in the Schipperke. This variant is caused by a recessive defect to the gene NAGLU.
Specifications
| Breeds | |
|---|---|
| Gene | NAGLU |
| Chromosome | 9 |
| Mutation | c.2110_2111ins[A(40_70);2100_2110] |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS IIIB, MPS3B, MPS 3B and MPSIIIB |
Clinical features
Onset of MPS IIIB typically starts around two years of age. Symptoms include ataxia (a lack of coordination) with dysmetria (an inability to judge distances while walking or otherwise moving), a wide stance and minor degeneration of the retinas. Symptoms gradually progress in severity, often leading to euthanasia being required before six years of age.
References
Pubmed ID: 32081995
Year published: 2020
Omia ID: 1342
Omia variant ID:
Turnaround information
- 15 working days