Mucopolysaccharidosis I (MPS1) – Boston Terrier
Code: H956
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 variant of the disease, known as Mucopolysaccharidosis Type I (MPS I) or Hurler Syndrome, is caused by a recessive mutation to the gene IDUA. The specific mutation analysed in this test is found in the Boston Terrier. Related variants also occur in the Plott Hound and Golden Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | IDUA |
| Chromosome | 3 |
| Mutation | c.19_20ins8 |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS I |
Clinical features
Affected dogs present between the ages of 4 and 6 months with ataxia (loss of coordination) and lethargy. Further symptoms can include an unusual head shape, with a broad and dome-shaped skull with wide-set eyes. The disease is progressive, and euthanasia is likely required because of poor quality of life.
References
Pubmed ID: 32300136
Year published: 2020
Omia ID: 664
Omia variant ID:
Turnaround information
- 20 working days