Screening for the Mucopolysaccharidosis-IlIA gene in Huntaway dogs

Authors: Johnstone AC, Jolly RD, Pollard A, Yogalingam G, Hubbard DE
Publication: New Zealand Veterinary Journal, Volume 50, Issue 3, pp 122, Jun 2002
Publisher: Taylor and Francis

Animal type: Companion animal, Dog
Subject Terms: Biosecurity, Diagnostic procedures, Disease control/eradication, Epidemiology, Genetics, Inherited disease/conditions
Article class: Correspondence

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Abstract:
A single case of the inherited lysosomal storage disease known as mucopolysaccharidosis-IIIA (MPS-IIIA), due to a deficiency of the enzyme heparan sulphatase, was reported in an 18-monthold male Huntaway dog (Jolly et al 2000). He had developed normally but when presented with a history of progressive ataxia over the preceding month, had a high stepping, prancing gait and difficulty in jumping into a utility vehicle. In addition, he had started to defecate in his kennel. Following diagnosis of the enzyme deficiency, the mutant heparan sulphatase gene was sequenced and a PCR/restriction enzyme diagnostic test developed, based on the mutation. This is capable of detecting both homozygous and heterozygous individuals (Yogalingam et al 2000). A survey of 203 Huntaway dogs with no known relationship to the presenting dog, was conducted in five central North Island veterinary practices using DNA derived from blood dotted on Guthrie cards. Results showed that.

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