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Adult Onset Deafness Border Collie (Linkage Association Test)

Affected Genes: USP31

Inheritance: Autosomal Recessive

Variant(canFam6):
chr6:24220605 T>G

Breed: Border Collie

General Information: Adult Onset Deafness in Border Collies is an inherited disorder characterized by the progressive loss of hearing that typically begins in adulthood. This condition results from a genetic mutation that affects the normal function of auditory cells. Dogs with two copies of the associated mutation are predisposed to this condition, which can manifest between the ages of 3 and 7 years. Symptoms include a gradual decrease in the dog's response to sound, ranging from reduced sensitivity to complete deafness. The progression of hearing loss can vary, but it ultimately impacts the dog's ability to respond to commands and environmental sounds. While not all dogs with the mutation will show symptoms immediately, the onset of deafness is usually inevitable as the dog ages. Early detection through genetic testing and informed breeding practices are essential to manage and potentially reduce the prevalence of this condition in the breed.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing using the Linkage Association Test can determine if a dog is a carrier of the genetic mutation associated with Adult Onset Deafness in Border Collies. This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.

References:
Yokoyama JS, Lam ET, Ruhe AL, Erdman CA, Robertson KR, Webb AA, Williams DCC, Chang ML, Hytönen MK, Lohi H, Hamilton SP, and Neff MW. Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies. PLoS Genet. 2012 8(9):e1002898.