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Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type I

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Test Overview:

Genetic testing is essential for all breeding cats to determine their carrier or affected status. Cats with two copies of the mutation (affected) must never be bred. Cats with one copy (carriers) should only be bred to cats that are clear (no mutation) to avoid producing affected kittens. Avoid breeding two carriers together to reduce disease incidence. Share genetic test results openly among breeders and buyers for responsible breeding decisions. Gradual reduction of the mutation is possible through selective breeding without compromising genetic diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

IDUA

Variant Detected:

c.3 bp del c.1107-1109 (tandem repeat) c.1042_1044del

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the IDUA gene will reliably determine if a cat is a carrier of Mucopolysaccharidosis Type I.

Research Citation(s):

Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. J Am Vet Med Assoc. 1979 Aug 15;175(4):384-7. PubMed PMID: 115818 PubMed: 115818 He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab. 1999 Jun;67(2):106-12. PubMed PMID: 10356309 PubMed: 10356309

Associated Breed(s):

Domestic Medium / Long Hair, Domestic Short Hair,
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