Mucopolysaccharidosis VII (MPS7) – Brazilian Terrier
Kodas: H451
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. A variant of the disease, type VII (MPS VII, also known as Sly Syndrome) is caused by a recessive mutation to the gene GUSB. The specific variant analysed in this test is found in the Brazilian Terrier. A related variant is also found in the German Shepherd.
Specifications
| Breeds | |
|---|---|
| Gene | GUSB |
| Chromosome | 6 |
| Mutation | c.866C>T |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS VII |
Clinical features
At 4 weeks of age, affected dogs show a shortened, broad face, low-set ears, and a laterally broad chest. By 8 weeks of age, diffuse corneal clouding is apparent. At 9 weeks of age, affected dogs are half as large as their normal littermates and have disproportionately large heads.
References
Pubmed ID: 22815736
Year published: 2012
Omia ID: 667
Omia variant ID:
Turnaround information
- 10 working days