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Autosomal Hereditary Recessive Nephropathy

Autosomal Hereditary Recessive Nephropathy

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Test Overview:

Do not breed affected dogs with two copies of the mutation to avoid producing affected offspring. Avoid carrier × carrier matings, as these have a 25% chance of producing affected puppies per litter. Breed carriers only to clear (non-carrier) dogs to ensure no affected puppies are born, though some carriers may result. Routine genetic screening is strongly recommended for breeds known to carry COL4A3/COL4A4 mutations, such as English Cocker Spaniels and English Springer Spaniels. Breed clubs and veterinary geneticists often provide guidelines to reduce the mutation frequency while maintaining genetic diversity.

Category:

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

Gene:

COL4A4

Variant Detected:

chr25:39953906 (canFam3): A>T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Davidson AG, Bell RJ, Lees GE, Kashtan CE, Davidson GS, Murphy KE. Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med. 2007 May-Jun; 21(3):394-401. [PubMed: 17552442] Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650] Lees GE, Helman RG, Kashtan CE, Michael AF, Homco LD, Millichamp NJ, Ninomiya Y, Sado Y, Naito I, Kim Y. A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. Kidney Int. 1998 Sep;54(3):706-19. [PubMed: 9734596]

Associated Breed(s):

American Cocker Spaniel, Australian Cobberdog, Australian Labradoodle , Bernardoodle, Cockapoo, Cocker Spaniel, English Springer Spaniel, Labradoodle , Labradoodle Retrodoodle , Mixed Breed, Spoodle,

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