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Van den Ende-Gupta Syndrome (Wire Fox Terrier Type)

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Test Overview:

Van den Ende-Gupta Syndrome affects dogs and is an inherited bone disorder. 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 however prone to osteoarthritis of the knees and vertebrae.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

SCARF2

Variant Detected:

c.865_866delTC chr26:30237714-30237715: 2 bp deletion (del TC)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

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

Research Citation(s):

Hytonen 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]

Associated Breed(s):

Toy Fox Terrier, Wire Fox Terrier,

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