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Dog DNA testing illustration

Van den Ende-Gupta Syndrome (VDEGS)

Code: H187

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder.

General information

Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder. It is due to an autosomal recessive mutation in the scavenger receptor class F, member 2 (SCARF2) gene, which plays a critical role in the bone mineralization and skeletal development. VDEGS is characterized by significant skeletal abnormalities such as joint luxations and related orthopedic issues. It is a rare but severe disorder that is primarily seen in Wire Fox Terriers.

Specifications

Breeds

Wire Fox Terrier
Gene

SCARF2
Chromosome

26
Mutation

c.1873_1874del
Organ

Skeletal system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

VDEGS

Clinical features

Affected dogs have a prominent underbite due to a short upper jaw (maxilla). Other clinical manifestations include luxation of the elbow or patella (dislocated kneecap), swollen knee joints and skeletal deformities such as bowed legs.

References

Pubmed ID: 27187611

Year published: 2016

Omia ID: 002016

Omia variant ID:

Turnaround information

  • 15 working days