Laryngeal Paralysis (Miniature Bull Terriers)
Affected Genes: RAPGEF
Inheritance: Autosomal Recessive
Variant(canFam6):
chr11:18637666-18637667 insertion 36 bases
Breed: Miniature Bull Terriers
General Information: Laryngeal Paralysis (Miniature Bull Terrier Type) is an inherited disorder in dogs that affects the larynx, or voice box, leading to difficulties in breathing. Dogs with two copies of the associated RAPGEF gene mutation are predisposed to this condition, which can manifest at any age, though symptoms often appear in middle-aged to older dogs. The disorder occurs when the muscles controlling the larynx weaken or become paralyzed, preventing the larynx from opening properly during breathing. Symptoms include noisy breathing, coughing, voice changes, difficulty swallowing, exercise intolerance, and in severe cases, respiratory distress. Left untreated, this condition can lead to serious complications, including airway obstruction. Surgical intervention is often required to manage severe cases, though some dogs may benefit from lifestyle changes and management of symptoms.
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 the RAPGEF gene variant can identify whether a dog is at risk of developing Laryngeal Paralysis (Miniature Bull Terrier Type). This disorder 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, with 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 being affected and a 50% chance of being a carrier. Genetic testing is crucial for responsible breeding practices, as breeding two carriers together increases the risk of producing affected offspring. Dogs that are not carriers have no increased risk of having affected puppies.
References:
Hadji Rasouliha S, Barrientos L, AndereggL, Klesty C, Lorenz J, Chevallier L, Jagannathan V, ROsch S, Leeb T .A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet 2019 15(10):e1008416.