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Hydrocephalus

35,00 

 → Accumulation of cerebrospinal fluid in a foal’s brain.


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Product Information

Affected breeds: Friesians and related breeds
Test #: H117
Description: Hydrocephalus Genetic Testing

This test detects the change of a single basepair in exon 12 in the B3GALNT2 gene.

Samples: Hair, Blood
Time: 10 – 14 days

General Information

  • Accumulated fluid exerts pressure on brain and skull.
  • Affected foals are usually stillborn.
  • Can lead to complications during birth → endangers mare.

Symptoms

  • Enlarged skull

Inheritance and Genotypes

→ Hydrocephalus is an autosomal recessive hereditary disease, meaning that horses with only one copy of the genetic variant (N/hcp) are clinically normal carriers while horses with two copies of the genetic variant (hcp/hcp) are affected.

Genotype: The horse is: Effects:
N/N normal. The horse does not have any copies of the genetic variant causative for Hydrocephalus and therefore cannot pass it on to any offspring.
N/hcp a carrier. The horse is clinically normal. The genetic variant causative for Hydrocephalus will be passed on to its offspring with a probability of 50%.
hcp/hcp affected. The horse is affected and will not live long enough to reproduce.

Recommendations

  • Carriers may be bred to normal animals (N/hcp x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/hcp x N/hcp) is not recommended due to the possibility of 25% of the offspring being affected.

References

Ducro, B.J., Schurink, A., Bastiaansen, J.W., Boegheim, I.J., van Steenbeek, F.G., Vos-Loohuis, M., Nijman, I.J., Monroe, G.R., Hellinga, I., Dibbits, B.W., Back, W., Leegwater, P.A.: A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. BMC Genomics 16:761, 2015. Pubmed reference: 26452345. DOI: 10.1186/s12864-015-1936-z.

Further information is available at Online Mendelian Inheritance in Animals.

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