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Van den Ende–Gupta Syndrome (VDEGS)
| Acronym: | VDEGS |
| Gene: | SCARF2 |
| Mutation: | c.1873_1874del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Van den Ende–Gupta Syndrome (VDEGS) is a genetic disorder affecting the Wire Fox Terrier dog breed. The disorder is characterized by craniofacial and skeletal manifestations, mainly malar and /or maxillary hypoplasia, a distinctive nose, and long slender bones of feet. The same-named syndrome is affecting human patients as well, with the same symptoms and mutation in the same gene as in the canine form of the disorder. Affected dogs can be recognized by their prominent underbite with the short maxilla (brachygnathia superior), with a slightly convex caudodorsal border of the maxilla. The affected puppies show unilateral congenital elbow luxation and secondary ossification centers. The vertebrae number and position appear normal, but the mid-thoracic spinous processes are thinner, longer, and more horizontally aligned than in healthy dogs. Adult dogs develop spinal arthritis. Affected dogs’ femurs have medial bowing of mid-shafts of the bone. The eyes appear smaller and the sclera thinner than normal. Examination reveals swollen knee joints and patellar luxation. No neurological deficits were noticed. CT imaging reveals a prominently deviated nasal septum to the left.
Van den Ende–Gupta Syndrome (VDEGS) in the Wire Fox Terriers is caused by a mutation in the SCARF2 gene. The mutation is caused by a 2-bp deletion in exon 6 of the SCARF2 gene, which results in a frameshift and a premature stop codon, and consequently, a truncated protein is produced. Van den Ende–Gupta Syndrome (VDEGS) in the Wire Fox Terriers is inherited in an autosomal recessive pattern. Healthy parents of the affected puppy are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes have no symptoms. Dogs homozygous for the mutation will display the symptoms of the VDEGS. At conception, when mating two carrier dogs, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
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. https://doi.org/10.1371/journal.pgen.1006037