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Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 6 |
| Mutation | c.866C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | MPS VII |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 22815736
Year published: 2012
Omia ID: 667
Omia variant ID: 58