2460: Molecular Genetic Characterization of Mucopolysaccharidosis Type VI for the Development of a Carrier Test and Relationship to Legg-Calve-Perthes Disease

Grant Status: Closed

Grant Amount: $39,998
Urs Giger, DVM, PhD; University of Pennsylvania
January 1, 2003 - December 31, 2005


Breed(s): Chesapeake Bay Retriever, Miniature Schnauzer, Miniature Pinscher, Cardigan Welsh Corgi
Research Program Area: Musculoskeletal Conditions and Disease
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Legg-Calve-Perthes disease is an orthopedic abnormality causing pain and decreased hip motion. The cause of this disease is unknown, but it is likely to be multi-factorial. It is common in smaller breeds of dog, including the Miniature Pinscher. Similarly, mucopolysaccharidosis type VI (MPS VI) is a disease that causes hip and patellar abnormalities. It, too, has been recognized as occurring with increased frequency in the Miniature Pinscher and some other breeds such as Miniature Schnauzers, Welsh Corgis, and Chesapeake Bay Retrievers. It is an autosomal recessively inherited disease caused by a deficiency in the enzyme arylsulfatase B. When the normal canine arylsulfatase gene sequence is know, the mutation responsible for MPS VI in the Miniature Pinscher as well as other breeds can be determined and it will be possible to develop genetic tests. Since MPS VI and Legg-Calve-Perthes disease have both been diagnosed in Miniature Pinschers and both cause skeletal defects, we hypothesize that at least a subset, if not all, Miniature Pinschers with Legg-Calve-Perthes disease in fact have MPS VI. We propose to develop a genetic test for MPS VI in the Miniature Pinscher and other breeds and to identify individuals with Legg-Calve-Perthes disease to see if they test as normal, carrier or affected in the MPS VI test.


Raj, K., Berman‐Booty, L., Foureman, P., & Giger, U. (2020). ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Animal Genetics. https://doi.org/10.1111/age.13005

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