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Dog DNA testing illustration

Mucopolysaccharidosis I (MPS1) – Plott Hound

Code: H983

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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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 Plott Hound. Related variants also occur in the Boston Terrier and Golden Retriever.

Specifications

Breeds

Plott Hound
Gene

IDUA
Chromosome

3
Mutation

c.155+1G>A
Organ

Cardiovascular System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

MPS I

Clinical features

Affected puppies present with severely stunted growth, cloudy eyes, loss of vision and progressive lameness. Other symptoms can include joint disease and a long, protruding tongue.

References

Pubmed ID: 1339393

Year published: 1992

Omia ID: 664

Omia variant ID:

Turnaround information

  • 15 working days