Breeds Affected: Poodle
Samples Accepted: Blood, Buccal Swab
Disease Information: Mucopolysaccharidosis Type VI is a lysosomal storage disease which leads to skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur.
Inheritance Information: MPS VI is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/mps6 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/mps6 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
mps6/mps6 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/mps6 carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/mps6 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/mps6 x N/mps6) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (mps6/mps6) should not be used for breeding.
Test information: This mutation test identifies a 22 base deletion in exon 1 of the ARSB gene.
Jolly, R.D., Hopwood, J.J., Marshall, N.R., Jenkins, K.S., Thompson, D.J., Dittmer, K.E., Thompson, J.C., Fedele, A.O., Raj, K., Giger, U.: Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J 60:183-8, 2012. Pubmed reference: 22329490. DOI: 10.1080/00480169.2011.642791
Further information is available at the Online Mendelian Inheritance in Animals website.