Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

Other Names: Warburg Micro Syndrome 1, POANV, WMS1
Affected Genes: RAB3GAP1
Inheritance: Autosomal Recessive
Mutation: chr19:37903870-37903871: 218 bp insertion; chr19:37903857-37903870: 14 bp duplication (dup CAGTACACTCATTT)

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Common Symptoms

Polyneuropathy with ocular abnormalities and neuronal vacuolation is an inherited developmental disease affecting Alaskan huskies. Affected dogs initially present around 4-5 months of age with visual deficits. Within a few months, affected dogs develop generalized neurologic dysfunction, severe Ataxia, and paralysis of the larynx resulting in excessive breathing sounds, an abnormal bark, and regurgitation. Affected dogs also have small, underdeveloped eyes, cataracts and abnormal membranes in the eyes, which often obstruct the pupils of the eyes (persistent pupillary membranes).


Breed-Specific Information for the Alaskan Husky

The Mutation of the RAB3GAP1 gene associated with polyneuropathy with ocular abnormalities and neuronal vacuolation has been identified in Alaskan huskies, although its overall frequency in this breed is unknown.


Testing Tips

Genetic testing of the RAB3GAP1 gene in Alaskan huskies will reliably determine whether a dog is a genetic Carrier of polyneuropathy with ocular abnormalities and neuronal vacuolation. Polyneuropathy with ocular abnormalities and neuronal vacuolation is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the RAB3GAP1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Alaskan huskies that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Wiedmer M, Oevermann A, Borer-Germann SE, Gorgas D, Shelton GD, Drögemüller M,Jagannathan V, Henke D, Leeb T. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda). 2015 Nov 23;6(2):255-62. [PubMed: 26596647]