New DNA Test for MPS VI in Miniature Pinscher

A new DNA-based test for mucopolysaccharidosis type VI (MPS VI) to identify affected, carrier, and normal miniature pinschers has been developed by researchers at the School.

MPS VI, an inherited lysosomal storage disease, has been seen in cats. The miniature pinscher is the first dog breed in which it has been identified. Affected miniature pinschers have been found in various states in the US and abroad, making this appear to be more wide-spread and under-diagnosed than previously thought. Diseases in the MPS group inhibit the cells’ ability to break down large sugar molecules and parts of the molecules accumulate in cells. This leads to deformities of limbs, vertebrae, sternum, and particularly, the hips. Affected animals may also have corneal cloudiness and facial malformations.

The test identifies affected, carrier, and normal miniature pinschers. Identification of carriers is particularly important as they show no signs of the disease. By knowing who the carriers are, breeders can avoid mating two carriers, which could produce affected animals, and will assist in eliminating the mutant allele altogether from the breed.

The test was developed by Dr. Polly Foureman, a Josephine Deubler Fellow in the School’s Section of Medical Genetics. The DNA-based test requires a blood sample to be submitted to the Josephine Deubler Genetic Disease Testing Laboratory at Penn. The research and test development were supported by grants from the AKC Canine Health Foundation and the National Institutes of Health.

The Penn medical genetics researchers, under the direction of Dr. Urs Giger, are also examining whether the common occurrence of Legge-Calves-Perthes (LCP) disease in miniature pinschers and other breeds is related to MPS VI. LCP, a devastating hip disease, is characterized by necrosis of the femur head. The cause remains unknown. LCP differs from hip dysplasia and MPS VI, but similar bone changes are observed in miniature pinschers with MPS VI. Penn’s researchers want to determine if there is an association between MPS and LCP disease in this and other breeds with LCP disease. This study is done by Lisa Berman, senior biology student at Penn, and is also funded by the AKC Canine Health Foundation.

Dr. Giger and his colleagues are requesting that breeders, owners, and veterinarians who suspect either condition in a miniature pinscher contact the laboratory. For a limited time the first 100 samples will accepted free of charge. Test results will be kept confidential and information about individual animals will only be reported to the owner. For further information, please visit the web site at <www.vet.upenn.edu/penngen> or contact Dr. Giger or Dr. Lisa Sarvas, the current Deubler Fellow, at <penngen@mail.vet.upenn.edu> or by fax at 215-573-2162.