Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

New Zealand Veterinary Journal

Volumn 60, Issue 3, 2012, Pages 183-188

  Jolly, R D ^a   Hopwood, J J ^b   Marshall, N R ^a   Jenkins, K S ^a   Thompson, D J ^a,e   Dittmer, K E ^a   Thompson, J C ^c   Fedele, A O ^b   Raj, K ^d   Giger, U ^d  

^a MASSEY UNIVERSITY   (New Zealand)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c Gribbles Veterinary Pathology   (New Zealand)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e Perth Veterinary Specialists   (Australia)

Author keywords

Arylsulphatase B; Lysosomal storage disease; Miniature Toy Poodle; mucopolysaccharidosis; mutation

Indexed keywords

N ACETYLGALACTOSAMINE 4 SULFATASE;

AMINO ACID SEQUENCE; ANIMAL; ANIMAL DISEASE; ARTICLE; CASE REPORT; DOG; DOG DISEASE; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; MALE; MORQUIO SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DOG DISEASES; DOGS; GENE DELETION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; MALE; MUCOPOLYSACCHARIDOSIS IV; N-ACETYLGALACTOSAMINE-4-SULFATASE;

CANIS FAMILIARIS; URIA; WALLERIA;

EID: 84859638499     PISSN: 00480169     EISSN: 11760710     Source Type: Journal    
DOI: 10.1080/00480169.2011.642791     Document Type: Article

References (22)

1. Auclair, D, Hopwood, J J, Brooks, D A, Lemontt, J F and Crawley, A C. 2003. Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy. Molecular Genetics and Metabolism, 78: 163-74.
2. *Barnes, P D. 2008. "Neuroimaging of the spine and spinal neuraxia in childhood". In Surgery of the Pediatric Spine, Edited by: Kim, D H, Betz, R R, Huhn, S L and Newton, P O. 23-48. New York, USA: Thieme Medical Publishers Inc.
3. Chih-Kuang, C, Shuan-Pei, L, Shyue-Jye, L and Tuen-Jen, W. 2002. MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in Sanfilippo and Morquio syndromes. Journal of Clinical Laboratory Analysis, 16: 253-8.
4. Crawley, A C, Niedzielski, K H, Isaac, E L, Davey, R C, Byers, S and Hopwood, J J. 1997. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis. Journal of Clinical Investigation, 99: 651-62.
5. Crawley, A C, Muntz, F H, Haskins, M E, Jones, B R and Hopwood, J J. 2003. Prevalence of mucopolysaccharidosis type VI in Siamese cats. Journal of Veterinary Internal Medicine, 17: 495-8.
6. Dickson, P, Peinovich, M, McEntee, M, Lester, T, Le, S, Krieger, A, Manuel, H, Jabagat, C, Passage, M and Kakkis, E D. 2008. Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccaridosis. Journal of Clinical Investigation, 118: 2868-76.
7. Dombrowski, S, Carmichael, K P, Wang, P, O'Malley, T M, Haskins, M E and Giger, U. 2004. Mucopolysaccharidosis type VII in a German Shepherd dog. Journal of American Veterinary Medical Association, 224: 553-7.
8. *Haskins, M and Giger, U. 2008. "Lysosomal storage diseases". In Clinical Biochemistry of Domestic Animals, Edited by: Kaneko, J J, Harvey, J W and Bruss, M L. 731-49. Burlington, USA: Elsevier Inc.
9. Haskins, M E, Desnick, R J, DiFerrante, N, Jezyk, P F and Patterson, D F. 1984. Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis type VII. Pediatric Research, 18: 980-4.
10. *Haskins, M E, Giger, U and Patterson, D F. 2006. "Animal models of lysosomal storage diseases: their development and clinical relevance". In Fabry Disease: Perspectives from 5 years of FOS, Edited by: Mehta, A, Beck, M and Sunder-Plassmann, G. 51-61. Oxford, England: Oxford PharmaGenesis.
11. Hein, L K, Meikle, P J, Dean, C J, Bockmann, M R, Auclair, D, Hopwood, J J and Brooks, D A. 2005. Development of an assay for the detection of mucopolysaccharidosis VI patients using dried blood spots. Clinica Chimica Acta, 353: 67-74.
12. Hopwood, J J and Elliott, H. 1982. Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Clinica Chimica Acta, 123: 241-50.
13. Hopwood, J J and Harrison, J R. 1982. High-resolution electrophoresis of urinary glycosaminoglycans: improved screening test for the mucopolysaccharidoses. Analytical Biochemistry, 119: 120-7.
14. Jolly, R D and Walkley, S U. 1997. Lysosomal storage diseases of animals: an essay in comparative pathology. Veterinary Pathology, 34: 527-48.
15. Karageorgos, L, Brooks, D A, Pollard, A, Melville, E L, Hein, L K, Clements, P R, Ketteridge, D, Swiedler, S J, Beck, M, Giugliani, R, Harmatz, P, Wraith, J E, Guffon, N, Teles, E L, Miranda, M CS and Hopwood, J J. 2007. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Human Mutation, 28: 897-903.
16. Neer, T M, Dial, S M, Pechman, R, Wang, P, Oliver, J L and Giger, U. 1995. Clinical vignette: mucopolysaccharidosis type VI in a miniature Pinscher. Journal of Veterinary Internal Medicine, 9: 429-33.
17. *Neufeld, E F and Meuezner, J. 2001. "The mucopolysaccharidoses". In The Metabolic Bases of Inherited Disease, Edited by: Scriver, R, Beaudet, A L, Sly, W S and Valle, D. 3421-52. New York, USA: McGraw-Hill.
18. Ostrander, E, Kruglyak, L, Parker, H G, Kim, L V, Stephens, M, Malek, T B, Sutter, N B and Carlson, S. 2010. "Methods and materials for canine breed identification".U.S. Patent 7729863
19. Parker, H C, Kim, L V, Sutter, N B, Carlson, S, Lorentzen, T D, Malek, T B, Johnson, G S, DeFrance, H B, Ostrander, E A and Kruglyak, L. 2004. Genetic structure of the purebred domestic dog. Science, 304: 1160-4.
20. Rittie, L and Fisher, G J. 2005. Isolation and culture of skin fibroblasts. Methods in Molecular Medicine, 117: 83-98.
21. Sewell, A C, Haskins, M E and Giger, U. 2007. Inherited metabolic disease in companion animals: searching for nature's mistakes. The Veterinary Journal, 174: 252-9.
22. Shull, R M, Helman, R G, Spellacy, E, Constantopouplos, G, Munger, R J and Neufeld, E F. 1984. Morphologic and biochemical studies of canine mucopolysaccharidosis I. American Journal of Pathology, 114: 487-95.