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Mucopolysaccharidosis Type VI (D520N) NO ASSOCIATION (MILD FORM)

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Description:

The ARSB D520N (c.1558G > A) has no evidence of association with disease and it is recommend breeders discontinue testing for this variant, unless in combination with the L476 variant. Testing for D520N should be considered in heterozygous L476P cats, however, the L476P variant itself is extremely rare in the general cat population and should not be tested unless a MPS disease is suspected.

Test Overview:

No health problems are associated with the D520N (c.1558G>A) variant, however, breeders that obtain positive results for this variant are speculating as to possible correlation with health concerns.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

ARSB

Variant Detected:

Base Substitution G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

BMC Vet Res. 2016; 12: 136

Associated Breed(s):

Domestic Medium / Long Hair, Domestic Short Hair, Siamese,
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