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Dihydroxyadenine Urolithiasis Type IA

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Test Overview:

Dogs should be tested for the APRT mutation, especially in breeds known to be affected, such as Native American Indian Dogs and Siberian Huskies. Breeding two carriers should be avoided to prevent producing affected puppies. Carriers may be bred to clear dogs but resulting puppies will be carriers and require future testing

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

Adenine phosphoribosyltransferase (APRT) on chromosome 5

Variant Detected:

Base Substitution c.260G>A p.Arg87Gln

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the APRT gene will reliably determine if a dog is a genetic carrier of Dihydroxyadenine Urolithiasis (Type IA).

Research Citation(s):

Furrow et al. Mol Genet Metab, An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. (2014) 111;3, 399–403

Associated Breed(s):

Mixed Breed, Native American Indian Dog,

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