Peer-reviewed veterinary case report
Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2.
- Journal:
- The Canadian veterinary journal = La revue veterinaire canadienne
- Year:
- 2019
- Authors:
- Kolb, David Scott & Klein, Claudia
- Affiliation:
- University of Calgary · United States
- Species:
- horse
Plain-English summary
A Belgian draft horse was found to have congenital hydrocephalus, which is a condition where fluid builds up in the brain, causing swelling. This case is notable because it is linked to a specific genetic mutation called B3GALNT2, which has been previously seen in Friesian horses with the same condition. The findings suggest that genetic testing could be important for breeding programs to help prevent this issue in the future.
Abstract
Congenital hydrocephalus has been reported for a number of horse breeds, and for Friesian horses this condition has been associated with a nonsense mutation of B3GALNT2. We report the first case of congenital hydrocephalus associated with the said mutation in a Belgian draft horse. Genetic testing and consideration of the testing results in breeding programs are warranted.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/30705458/