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Fanconi Syndrome

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Test Overview:

For breeds with a genetic predisposition (such as Basenjis), genetic testing is highly recommended prior to breeding. Carriers should not be bred together to avoid producing affected offspring, as each pup from a carrier-to-carrier pairing has a 25% chance of being affected. Responsible breeders should use molecular screening (such as testing for the FAN1 deletion) to inform their breeding programs and reduce the prevalence of the disorder in future generations.

Category:

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

Gene:

FAN1

Variant Detected:

chr3:38013703-38014019 (canFam3): 317 bp deletion

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the FAN1 gene will reliably determine if a dog is a genetic carrier of Fanconi syndrome.

Research Citation(s):

Farias FHG. Molecular genetic studies of canine inherited diseases [dissertation]. 2011. Retrieved from MOspace. Johnson GS, Farias FH, Mhlanga-Mutangadura T, Taylor JF, O'Brien DP, Schnabel RD. Whole genome sequencing reveals a deletion of the last exon of FAN1 in Basenji dogs with adult-onset Fanconi syndrome [abstract]. Presented at the 63rd Annual Meeting of the American Society of Human Genetics in San Francisco, California; 2012 Nov 6-10. Noonan CH, Kay JM. Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United States. J Am Vet Med Assoc. 1990 Aug 1;197(3):345-9. [PubMed: 2391269] Yearley JH, Hancock DD, Mealey KL. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc. 2004 Aug 1;225(3):377-83. [PubMed: 15328712]

Associated Breed(s):

Basenji,

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