Testing of dogs: van den Ende-Gupta syndrome

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Van den Ende-Gupta syndrome in Wire Fox Terrier

The Van den Ende-Gupta Syndrome (VDEGS) has been described in Wire Fox Terriers and causes severe skeletal anomalies that are already evident in young puppies. Other characteristic features of the disorder are severe patellar luxation and overshot (distinctly shortened maxilla) that often is the first sign of this disease. The disorder can also cause elbow luxation, knee-joint swelling and abnormal structure of the nasal septum.

This disease is associated with casual mutation c.865_866delTC in the SCARF2 gene. The SCARF2-gene is a single-pass transmembrane protein with homology to calmodulin-like proteins taking part in calcium signalling.

Mutation that causes VDEGS is inherited as an autosomal recessive trait. That means the disease affects dogs with P/P (positive / positive) genotype only. The dogs with P/N (positive /negative) genotype are clinically without any symptom. They are genetically considered carriers of the disease (heterozygotes). In offspring of two heterozygous animals following genotype distribution can be expected: 25 % N/N (healthy non-carriers), 25 % P/P (affected), and 50 % N/P (healthy carriers). Because of high risk of producing affected offspring, mating of two N/P animals (carriers) can not be recommended.



Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, et al. (2016) Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12(5): e1006037. doi:10.1371/journal. pgen.1006037

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Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT