Mucopolysaccharidosis (MPS) VII

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Related Terms: Beta-glucuronidase Deficiency, GUSB, MPS VII, Sly Syndrome

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

4–6 weeks (dogs), 2 months (cats)

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - German Shepherd

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Clinical signs include growth retardation, facial dysmorphia, corneal clouding, delayed dental eruption, skeletal abnormalities, fusion of the cervical vertebrae, joint effusion, joint dislocation, hip dysplasia, cardiac disease, cardiac valve thickening, organomegaly, and granulation of peripheral leukocytes.

18 months

Autosomal recessive

Lysosomal storage in multiple organs along with degermation and inflammation of affected tissues.

GUSB and NM_001003191.1:c.497G>A (German Shepherd, Mixed Breed) GUSB and NM_001009310.1:c.1051G>A (Domestic Short Hair)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Mucopolysaccharidosis (MPS) VII and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Mucopolysaccharidosis (MPS) VII but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Mucopolysaccharidosis (MPS) VII and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Silverstein Dombrowski DC, Carmichael KP, Wang P, O'Malley TM, Haskins ME, Giger U. Mucopolysaccharidosis type VII in a German Shepherd Dog. J Am Vet Med Assoc. 2004 Feb 15;224(4):553-7, 532-3. doi: 10.2460/javma.2004.224.553. PMID: 14989549. Ray J, Haskins ME, Ray K. Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs. Am J Vet Res. 1998 Sep;59(9):1092-5. PMID: 9736382. Ray J, Bouvet A, DeSanto C, Fyfe JC, Xu D, Wolfe JH, Aguirre GD, Patterson DF, Haskins ME, Henthorn PS. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. Genomics. 1998 Mar 1;48(2):248-53. doi: 10.1006/geno.1997.5189. PMID: 9521879. Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF. Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol. 1991 Jun;138(6):1553-5. PMID: 1905109; PMCID: PMC1886403. Fyfe JC, Kurzhals RL, Lassaline ME, Henthorn PS, Alur PR, Wang P, Wolfe JH, Giger U, Haskins ME, Patterson DF, Sun H, Jain S, Yuhki N. Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics. 1999 Jun 1;58(2):121-8. doi: 10.1006/geno.1999.5825. PMID: 10366443.