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Van den Ende-Gupta Syndrome (VDEGS Dog)

Van den Ende-Gupta syndrome leads to disorders of the skeletal system with various malformations of the bones, for example underbite or overbite, small eyes and restricted movement of the joints.

The disease occurs in the Wire Fox Terrier. The inheritance is autosomal recessive.

Symptoms

  • Underbite or overbite
  • Small eyes
  • Changes of the nasal septum
  • Displacement of the kneecap
  • Restricted movement of the joints
  • Various other skeletal malformations

General Information

  • Van den Ende-Gupta syndrome leads to disorders of the skeletal system with various malformations of the bones.
  • A similar disorder has also been observed in other mammalian species (for example humans).

Breeds affected

Wire Fox Terrier, a dog breed affected by Van den Ende-Gupta syndrome (VDEGS)

Wire Fox Terrier

Test Information

This mutation test detects a deletion (c.865_866delTC) in the SCARF2 gene.

Genotype and Lab Report

Inheritance: autosomal recessive

→ The disease only occurs if both alleles of the gene are affected by the mutation (vdegs/vdegs). Dogs that have only one allele with the causative mutation (N/vdegs) are clinically healthy carriers.

Genotypes:

N/N = genetically normal

The dog has no predisposition for VDEGS and therefore cannot pass it on to its offspring.

N/vdegs = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are then also carriers.

vdegs/vdegs = affected

The variation is passed on 100% to the offspring. The offspring are carriers or affected.

Recommendations

  • Carrier animals can be bred to normal animals (N/vdegs x N/N). Before breeding with the offspring, it should be tested whether they are normal or carriers.
  • Mating two carrier animals (N/vdegs x N/vdegs) should be avoided because there is a 25% chance that the offspring will be affected.
  • Affected animals (vdegs/vdegs) should be excluded from breeding.

Literature

Hytönen, M.K., Arumilli, M., Lappalainen, A.K., 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 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.

Further information is available at: Online Mendelian Inheritance in Animals.