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Laryngeal paralysis

Laryngeal paralysis is a rare genetic disorder that affects the proper functioning of the laryngeal muscles, leading to difficulty in breathing, swallowing, and barking.

Affected Genes: RAPGEF6

Inheritance: Autosomal Recessive Inheritance

Variant(canFam6):
chr11:18637666-18637666 insertion 36 bp

Breed: Miniature Bull Terriers

General Information: Laryngeal Paralysis in dogs due to a mutation in the RAPGEF6 gene is a genetic condition that affects the proper function of the larynx. This disorder leads to impaired opening of the airway during breathing, causing difficulty in airflow. It is inherited in an Autosomal Dominant manner, meaning that a dog only needs one copy of the mutated gene from either parent to be affected by the condition.

Symptoms typically include noisy breathing, exercise intolerance, and in severe cases, difficulty breathing, especially during hot weather or physical exertion. Dogs may also exhibit a weak or hoarse bark. If left unmanaged, the condition can progress, potentially leading to respiratory distress. Treatment often involves surgical intervention and management strategies to ensure the dog maintains a good quality of life.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the RAPGEF6 gene variant can identify whether a dog is at risk of developing Laryngeal Paralysis. This condition is inherited in an Autosomal Dominant manner, meaning that only one copy of the mutated gene is sufficient for the dog to be affected.

Dogs with one copy of the mutation are likely to develop symptoms, while those without the mutation will not be affected and cannot pass the condition to their offspring. Genetic testing is crucial for breeding considerations, as breeding an affected dog with a dog free of the mutation will still result in a 50% chance of producing affected puppies.


References:
Rasouliha SH, Barrientos L, Anderegg L, Klesty C, Lorenz J, Chevallier L, Jagannathan V, Rösch S, Leeb T. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet. 2019 15(10):e1008416