Lyons LA, Grahn RA, Genova F. Mucopolysaccharidosis VI in cats – clarification regarding genetic testing. BMC Veterinary Research. 2016 Jul 2. 12(1):136.
New DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are known for the cat. When used properly, genetic testing can prevent production of diseased animals and potentially the eventual eradication of the disease.
However, testing of some DNA variants may be unwarranted causing unnecessary reduction of gene pools and availability of breeding animals. Testing for mucopolysaccharidosis Type VI has come under scrutiny. No health problems are associated with the specific mutation in the arylsulfatase B gene Birman breeders that obtain positive results for this variant are speculating as to possible correlation with health concerns. Birman cats, which already have a markedly reduced gene pool, have a high frequency of this mutation. Elimination of cats with this mutation (called D520N) could lead to inbreeding.
Surveys from different labs suggest the D520N mutation testing is not warranted in cat populations as no evidence of association with disease in cats has been found. (MK)
Crawley AC, Muntz FH, et al. Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats. J Vet Intern Med. 2003 Jul-Aug;17(4):495-8.