Mucopolysaccharidosis Type VI (D520N) NO ASSOCIATION (MILD FORM) Overview
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.
Category: Haemolymphatic (Associated with the Circulatory System)
Variant Detected: Base Substitution G>A
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
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.
Research Citation(s): BMC Vet Res. 2016; 12: 136
Associated Breed(s): Siamese, Domestic Short Hair, Domestic Medium / Long Hair,