Affected gene: GUSB
Transmission: Autosomal recessive
Mutation: CanFam3.1 6 g.741429C>T c.497G>A
OMIA link: 000667-9615

Breeds suitable for testing : German Shepherd, Belgian Shepherd, Malinois, Swiss White Shepherd, Belgian Tervueren, Shiloh Shepherd

References:
Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF. Mucopoysaccharidosis type VII (Sly Syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol. 1991 Jun;138(6):1553-5. [PubMed: 1905109]
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. [PubMed: 9521879]
Ray J, Haskins ME, Ray K. Am J Vet Res. Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs. 1998 Sep; 59(9):1092-5. [PubMed: 9736382]
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. [PubMed: 14989549]