Warmblood Fragile Foal Syndrome (WFFS Horse)

• Majority of foals are not carried to term – most are spontaneously aborted or stillborn
• Newborn foals have skin detachment from the body without external influence
• Separation of skin and subcutis without bleeding.
• Foal makes no or only weak attempts to get up.
• Hypermobile joints.

• Warmblood Fragile Foal Syndrome (WFFS) is a connective tissue disorder in warmbloods that leads to skin detachment.
• Mutation in the PLOD1 gene. This encodes the PLOD1 protein, which supports the collagen fibres so that they can fold and connect → Essential for the structural integrity of the body: skin, membrane, joints.
• Affected animals must always be humanely euthanized with hours.
• Similar to human connective tissue disease “Ehlers-Danlos syndrome” (type IV), also caused by a mutation in the PLOD1 gene (LH1)
• Hypothesis: Most (W)FFS pregnancies end in spontaneous abortions.

Starting in January 2019, all stallions active in breeding in Germany must be tested and the results have to be made public (registration regulations stallion book I / II according to ZVO).

This mutation test dedects the change of a single base pair (c.2032G>A) in the PLOD1 gene.

This test is performed by partner laboratory.

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Inheritance: autosomal recessive

→ Only horses with two copies of the variant (ffs/ffs) are affected. Horses with only one copy (N/ffs) are clinically healthy carriers.

Genotype

N/N = normal

The horse has no copies of the genetic variant causitive for FFS and therefore cannot pass it on to its offspring.

N/ffs = a carrier

The horse is clinically healthy.  It has one copy of the genetic variant causitive for FFS, which will be passed on to its offspring with a probability of 50%.

ffs/ffs = affected

The horse does not survive more than a few hours.

• Carriers may be bred to normal animals (N/ffs 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/ffs x N/ffs) is not recommended due to the possibility of 25% of the offspring being affected.
• Affected animals (ffs/ffs) usually die within a few hours.

Monthoux, C., de Brot, S., Jackson, M., Bleul, U., Walter, J.: Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res 11:12, 2015. Pubmed reference: 25637337. DOI: 10.1186/s12917-015-0318-8.

On 12.04.2019, CAG Scientific Lead Melissa Cox gave a presentation about Warmblood Fragile Foal Syndrome at the 6. Liebenberger Pferdeforum.  The presentation (in German) is now available for anyone who is interested in learning more about the disease. 2019-04-12 CAG GmbH – Liebenberger Pferdeforum – WFFS – Cox

Further information is available at Online Mendelian Inheritance in Animals.

generatio ist ihr Test Labor für Warmblood Fragile Foal Syndrome (WFFS). Mit dem WFFS Gen Test testen wird Ihr Pferd auf das PLOD1-Gen getestet. Jetzt hier auf WFFS testen: Hier bestellen