Van Den Ende-Gupta Syndrome

Other Names: Skeletal Dysplasia Syndrome, VDEGS
Affected Genes: SCARF2
Inheritance: Autosomal Recessive
Mutation: chr26:30237714-30237715: 2 bp deletion (del TC)
Breed(s): Wire Fox Terrier

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Common Symptoms

Van den Ende-Gupta syndrome is an inherited bone disorder affecting dogs. Affected puppies are born with multiple skeletal abnormalities of which an underbite is most notable. They also have small eyes and bowed hind legs. Skeletal changes in the legs make dogs prone to luxation of the knees and occasionally elbows. While affected dogs live normal lives, they are prone to osteoarthritis of the knees and vertebrae.


Testing Tips

Genetic testing of the SCARF2 gene will reliably determine whether a dog is a genetic Carrier of Van den Ende-Gupta syndrome. Van den Ende-Gupta syndrome 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 SCARF2 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. Dogs 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

  • Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 May 17;12(5):e1006037. [PubMed: 27187611]