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Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2

David Scott Kolb1, Claudia Klein1

  • 1Lodi Veterinary Care, 705 North Main Street, Lodi, Wisconsin 53555, USA (Kolb); University of Calgary, Faculty of Veterinary Medicine, 3280 Hospital Drive NW, Calgary, Alberta T2N 4Z6 (Klein).

The Canadian Veterinary Journal = La Revue Veterinaire Canadienne
|February 2, 2019
PubMed

Insights

Congenital hydrocephalus, a brain condition, was identified in a Belgian draft horse due to a B3GALNT2 gene mutation. This finding highlights the need for genetic testing in horse breeding programs to prevent the condition.

Area of Science:

  • Veterinary Genetics
  • Equine Medicine
  • Developmental Biology

Background:

  • Congenital hydrocephalus is a known condition in various horse breeds.
  • In Friesian horses, this condition is linked to a specific nonsense mutation in the B3GALNT2 gene.

Observation:

  • A case of congenital hydrocephalus was diagnosed in a Belgian draft horse.
  • This marks the first reported instance of this condition in this particular breed.

Findings:

  • Genetic analysis confirmed the presence of the previously identified nonsense mutation in the B3GALNT2 gene in the affected Belgian draft horse.
  • This mutation is the likely cause of congenital hydrocephalus in this individual.

Implications:

  • The findings suggest that the B3GALNT2 mutation is not exclusive to Friesian horses and can occur in other breeds like Belgian Drafts.
  • Genetic testing for the B3GALNT2 mutation should be considered for breeding programs involving Belgian Draft horses and potentially other susceptible breeds.
  • Early identification through genetic testing can aid in managing and potentially reducing the incidence of congenital hydrocephalus in equine populations.

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