Productformulier

FFS (WFFS) Fragiel veulensyndroom

Name: FFS (WFFS) Fragiel veulensyndroom
Brand: Equigerminal
Price: 43.05 EUR

Verzeker de gezondheid en toekomst van uw paarden met nauwkeurige WFFS-tests. Onze DNA-test controleert de aanwezigheid van het getroffen allel...

€43.05 Incl. BTW

Over

This test shows whether your horse carries the gene change behind Warmblood Fragile Foal Syndrome, an inherited condition in which a foal is born with skin that tears from ordinary contact.

It is most relevant for Warmblood and sport horse breeders. Carriers have also been found in Thoroughbreds and a few other breeds, so it suits any breeding horse from these backgrounds.

Waarom testen?

Studbook registration. The result provides reliable genetic information for breeding and registration.

Breeding. Two carriers can produce an affected foal. Knowing the result of both parents tells you what each mating can produce.

Buying and selling. The result is objective, permanent information you can show a buyer.

Investigating a lost foal. WFFS should be considered after an abortion, a stillbirth or a foal born too weak to survive. Testing the foal and both parents settles the question.

Klinische tekenen

Signs are present at birth, and only in foals that inherited the change from both parents:

Thin skin with no strength, loosely attached to the tissue underneath, that tears and opens into sores from normal handling
Sores concentrated where the skin is pressed, and on the gums and inside the mouth
Slack, over-bendy leg joints, so the foal cannot stand normally
Swelling under the skin, and pockets of blood or fluid at pressure points, particularly the fetlocks and hocks
In severe cases, an open abdomen with the intestines outside the body

There is no treatment. None of these signs is unique to WFFS. The diagnosis is made by a veterinarian, combining the history, the examination and this genetic result.

Transmissie

WFFS is recessive. A foal needs one copy from the sire and one from the dam to be affected. One copy makes a horse a carrier, never a patient. The gene is not on a sex chromosome, so colts and fillies are affected equally.

What each mating can produce:

n/n x n/n gives 100% n/n
n/n x n/WFFS gives 50% n/n, 50% n/WFFS
n/n x WFFS/WFFS gives 100% n/WFFS
n/WFFS x n/WFFS gives 25% n/n, 50% n/WFFS, 25% WFFS/WFFS
n/WFFS x WFFS/WFFS gives 50% n/WFFS, 50% WFFS/WFFS
WFFS/WFFS x WFFS/WFFS gives 100% WFFS/WFFS

Preventie

Prevention is entirely a breeding decision.

Breeding. Test breeding stock before mating and never mate two carriers. A carrier mated to a partner that tested negative produces no affected foals, although some foals will be carriers.

Keeping valuable lines. Carrying the change is not a reason to leave a horse out of breeding. Mate a carrier only with partners that tested negative and test every foal. This keeps good bloodlines in use while the change is bred out.

Resultaten

n/n: negative. No copy of the WFFS variant. Cannot pass it on.

n/WFFS: carrier. One copy. Healthy. Can pass the variant on.

WFFS/WFFS: affected. Two copies. The foal has WFFS.

Voorbeeld

Hair roots: 20 to 40 hairs pulled (not cut) from the mane or tail, with the roots attached. Tape them inside the marked area of the printable sample submission form. Hairs without roots cannot be analysed. For very young foals, tail hair is usually easiest.

Blood: 5 mL of whole blood in a K3-EDTA tube, collected by a veterinarian. Label the tube with the horse's name and send it with the submission form.

Keep samples dry and at room temperature, and do not freeze them. Do not send hair that is wet, mouldy or soiled with bedding or faeces.

Doorlooptijd

Standard processing: results within 5 to 10 working days of the sample arriving at the laboratory. Shipping is arranged and paid for by the client, and transit time is not included in the 5 to 10 working days.

Samples that fail DNA extraction or amplification are repeated at no extra cost, which may add a few working days. We contact you if a new sample is required.

Hoe het werkt

🛒 Koop de test: kies de test en koop hem online.

📧 Ontvang de instructies: na bevestiging van de betaling ontvangt u de instructies voor het afnemen van het monster per e-mail.

📄 Vul het formulier in: print het inzendformulier en vul het in met de identificatie van het dier.

✨ Neem het monster af: trek 20 tot 40 haren met wortel (bulbus) uit en plak ze in het gemarkeerde vak op het formulier, of laat uw dierenarts bloed afnemen in een K3-EDTA-buis.

📮 Stuur het naar het laboratorium: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

📊 Ontvang het rapport: het gecertificeerde rapport wordt uitgegeven zodra de analyse is gevalideerd.

Veelgestelde vragen

At what age can a horse be tested?
Any age, including newborn foals. The genotype is fixed at conception and never changes, so one test lasts for life.

Why do some reports say Fragile Foal Syndrome instead of WFFS?
It is the same condition. The breed name was dropped once the variant was found outside the Warmbloods.

Does a negative result mean my foal cannot have fragile skin?
No. This test covers WFFS only. Horses have other fragile-skin diseases, including HERDA, which is caused by a different gene, and conditions whose genetic cause is not yet known.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Gene / locus: PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; lysyl hydroxylase 1), ECA2.
Variant: c.2032G>A, missense. HGVS (EquCab3.0): NC_009145.3:g.39927817C>T; XM_001491331.6:c.2032G>A; XP_001491381.1:p.(Gly678Arg).
Alternative designations: genomic C>T and cDNA G>A describe the same change on opposite strands. Condition names in use: Warmblood Fragile Foal Syndrome (WFFS, WBFFS), Fragile Foal Syndrome type 1 (FFS), equine kyphoscoliotic Ehlers-Danlos syndrome. Laboratory allele symbol: WFFS.
Variant identifiers: rs1136065234 (EVA); OMIA variant 165.
Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
Mechanism: lysyl hydroxylase 1 modifies collagen so that its fibres can cross-link. Without a working enzyme the fibres do not bind properly and connective tissue, above all skin, lacks strength. Faults in the same gene cause the kyphoscoliotic form of Ehlers-Danlos syndrome in humans.
Inheritance: autosomal recessive (OMIA code R).
Penetrance / expressivity: homozygotes: abortion, stillbirth or non-viable foals with fragile skin (Aurich et al., 2019; Monthoux et al., 2015). Heterozygotes are clinically normal.
Breeds with documented carriers or cases: Warmblood and Thoroughbred (OMIA variant record); carriers also in Haflinger, American Sport Pony and Knabstrupper (Reiter et al., 2020). First affected Thoroughbred foal: Grillos et al. (2022).
Allele / carrier frequencies: all figures are carrier frequencies. Brazil, Warmbloods: 11% of 374 (Dias et al., 2019). Europe and USA, 4,081 horses of 38 breeds: carriers in 21 breeds, up to 17% in Hanoverian and Danish Warmblood; Thoroughbred 17/716, Haflinger 2/48, American Sport Pony 1/12, Knabstrupper 3/46 (Reiter et al., 2020). 7,343 horses: 5.32% of warmblood-type horses versus 0.45% of other breeds (Martin et al., 2020). Ireland: 6/303 sport horses (1.98%), 3/109 Thoroughbreds (2.75%); not found in Standardbred, Cob, Connemara or other pony breeds tested (Rowe et al., 2021; 469 horses). Sweden: 7.4% of 511 randomly chosen Swedish Warmbloods born 2017 (Ablondi et al., 2022). Thoroughbred: 1.2% (Bellone et al., 2020); under 1% in the US population sampled 1988 to 2019 (Elcombe et al., 2023).
Origin: the Thoroughbred Dark Ronald XX (1905 to 1928), long proposed as founder, did not carry the variant when his preserved skin was tested (Zhang et al., 2020). Metzger et al. (2020) identified a Hanoverian stallion born in 1861, in the F/W sire line, as the main route of spread through the warmblood population. A commercial DNA test has been available since 2013.
Clinical / diagnostic notes for veterinarians: the laboratory genotypes this variant only. An n/n result does not exclude other fragile-skin disorders, including HERDA (PPIB) and Ehlers-Danlos-like conditions of unknown genetic cause.

Key references:

Monthoux C, de Brot S, Jackson M, Bleul U, Walter J (2015). Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res 11:12. doi:10.1186/s12917-015-0318-8. PMID 25637337.
Aurich C, Muller-Herbst S, Reineking W, Muller E, Wohlsein P, Gunreben B, Aurich J (2019). Characterization of abortion, stillbirth and non-viable foals homozygous for the Warmblood Fragile Foal Syndrome. Anim Reprod Sci 211:106202. doi:10.1016/j.anireprosci.2019.106202.
Dias NM, de Andrade DGA, Teixeira-Neto AR, Trinque CM, Oliveira-Filho JP, Winand NJ, Araujo JP, Borges AS (2019). Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil. Vet J 248:101-102. doi:10.1016/j.tvjl.2019.05.002.
Reiter S, Wallner B, Brem G, et al. (2020). Distribution of the Warmblood Fragile Foal Syndrome type 1 mutation in different horse breeds from Europe and the United States. Genes 11:1518. doi:10.3390/genes11121518.
Martin K, Brooks S, Vierra M, Lafayette WT, McClure S, Carpenter M, Lafayette C (2020). Fragile Foal Syndrome occurs across diverse horse populations. Anim Genet 52:137-138. doi:10.1111/age.13020.
Grillos AS, Roach JM, de Mestre AM, Foote AK, Kingsley NB, Mienaltowski MJ, Bellone RR (2022). First reported case of fragile foal syndrome type 1 in the Thoroughbred. Equine Vet J 54:1086-1093. doi:10.1111/evj.13547.