Back

Van Den Ende-Gupta Syndrome

Van Den Ende-Gupta Syndrome (VDEGS) is an inherited skeletal disorder in dogs, characterized by distinct skeletal abnormalities including an underbite and bowed legs.

Affected Genes: SCARF2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr26:30196676: C>DEL

Breed: Wire Fox Terrier

General Information: Van Den Ende-Gupta Syndrome (VDEGS) is a genetic condition in dogs that presents with multiple skeletal deformities from birth. The most noticeable symptoms include an underbite, small eyes, and bowed hind legs, which can lead to secondary complications such as knee and elbow luxations. These skeletal changes make the affected dogs more susceptible to developing osteoarthritis in their knees and vertebrae over time. Despite these challenges, dogs with this syndrome can lead normal lives if managed properly with veterinary care aimed at minimizing orthopedic discomfort and maintaining mobility.

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 SCARF2 gene can determine if a dog is a carrier of Van Den Ende-Gupta Syndrome, an autosomal recessive disorder. This means that a dog must inherit two copies of the mutated gene, one from each parent, to express the disease. Carrier dogs, which have only one copy of the mutation, typically do not exhibit any of the disease's symptoms but can pass the defective gene to their offspring. Breeding two carriers together carries a 25% chance that each puppy will inherit the disease and a 50% chance that each will be a carrier. To ensure the health of future litters and to work towards eliminating this mutation from the breeding pool, it is advised that breeders avoid mating two known carriers. Reliable genetic testing is essential for making informed breeding decisions to prevent the propagation of this condition, helping to maintain the overall health and well-being of the breed.

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 12(5):e1006037.