Inguinal Cryptorchidism
Affected Genes: HMGA2
Variant(canFam6):
chr10:8278901: G>A
Breed: Many
General Information: Inguinal Cryptorchidism is a congenital condition in dogs where one or both of the testicles fail to descend into the scrotum and are retained in the inguinal canal. This disorder is often observed in young male dogs and can lead to complications such as infertility, increased risk of testicular cancer, and torsion of the retained testicle. Symptoms may include the absence of one or both testicles in the scrotum, and in some cases, discomfort or pain. While the condition is typically identified during a physical examination, it may sometimes require ultrasound for confirmation. Surgical intervention, often through neutering, is commonly recommended to prevent future complications.
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 for Inguinal Cryptorchidism can identify dogs that carry the mutation associated with this condition. This condition is believed to be inherited in a complex manner with a possible autosomal recessive pattern, implying that dogs must inherit two copies of the mutated gene, one from each parent, to be affected. Carrier dogs, which possess only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. Breeding two carriers together increases the likelihood of producing affected puppies. Genetic testing is an essential tool for breeders to make informed decisions and reduce the prevalence of this condition in breeding lines. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Blades M, Freyer J, Donner J, Chodroff Foran R, and Forman OP. Large scale across-breed genome-wide association study reveals a variant in HMGA2 associated with inguinal cryptorchidism risk in dogs. PLoS One 2022 17(5):e0267604
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