Demyelinating Polyneuropathy
Affected Genes: SBF2
Inheritance: Autosomal Recessive
Variant(canFam6):
chr21:32647063: C>A
Breed: Miniature Schnauzer
General Information: Demyelinating polyneuropathy is a disorder that causes a change in neurological function. Dramatic decreases in nerve conduction velocities are observed in affected dogs leading to multiple clinical signs. Affected dogs often have megaesophagus leading to regurgitation and a quiet or silent bark. Other signs that are inconsistent between affected dogs include delayed reflexes in the limbs, muscle tremors, delayed ocular reflexes, exercise intolerance, and seizures.
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 Demyelinating polyneuropathy involves screening for mutations in the SBF2 gene, which is responsible for the condition. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.
References:
Granger N, Feliu-Pascual AL, Spicer C, Ricketts S, Hitti R, Forman O, Hersheson J, and Houlden H. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ. 2019 7:e7983.