Mucopolysaccharidosis VII (MPS7) – German Shepherd
Kodas: H748
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 German Shepherd. A related variant is also found in the Brazilian Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | GUSB |
| Chromosome | 6 |
| Mutation | c.497G>A |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS VII |
Clinical features
Affected dogs have symptoms such as ataxia, head tremors, swaying and abnormal eye movement. The clinical signs develop around the age of 3 years.
References
Pubmed ID: 9521879
Year published: 1998
Omia ID: 667
Omia variant ID:
Turnaround information
- 10 working days