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Breeds: American Sport Horse, American Sport Pony, American Warmblood, Anglo European Studbook, Appaloosa/Thoroughbred, Arabian/Dutch Warmblood, Arabian/Thoroughbred, Arabian/Warmblood, Australian Warmblood, Baroque Pinto, Belgian Draft Horse, Belgian Sport Horse, Belgian Warmblood, Brandenburg, British Sport Horse, British Sports Pony, British Warmblood, Canadian Sport Horse, Canadian Warmblood, Cob/Warmblood, Crossbred, Czech Warmblood, Danish Warmblood, Dutch Warmblood, Dutch/Oldenburg, Dutch/Swedish Warmblood Cross, Equine, Frederiksborger, Freiberger, French Warmblood, German Riding Pony, German Warmblood, Haflinger, Hanoverian, Hanoverian Cross, Hanoverian/Thoroughbred, Holsteiner, Holsteiner/Thoroughbred, Hungarian, Hungarian Warmblood, Hunter Horse, Hunter Pony, Iberian Warmblood, International Heavy Warmblood, International Sport Horse, Irish Draught Sport Horse, Irish Sport Horse, Irish Warmblood, Knabstrupper, Lusitano/Warmblood, Mixed Breed, North American Studbook, North American Trakehner, Oldenburg, Paint Cross, Paint/Warmblood, Polish Warmblood, Quarter/Thoroughbred, Quarter/Warmblood, Rheinland, Rhinelander, Saddlebred/Warmblood, Scottish Sport Horse, Selle Francais, Slovakian Warmblood, Sportaloosa, Sports Horse, Stonewall Sporthorse, Swedish Riding Pony, Swedish Warmblood, Swiss Warmblood, Thoroughbred, Thoroughbred/Warmblood, Trakehner, Unspecified, Virginia Warmblood, Warlander, Warmblood, Warmblood Cross, Westphalian, Zangersheide, Zweibrücker
Description
Warmblood Fragile Foal Syndrome (WFFS) is a fatal inherited connective tissue disorder caused by a single mutation in the PLOD1 gene. PLOD1 encodes an enzyme needed to form stable collagen fibers, which give strength to skin, joints, and many other tissues. Mutations in PLOD1 cause a similar condition in humans, a form of Ehlers-Danlos syndrome (kyphoscoliotic type, formerly type VI). The equine mutation was discovered by Dr. Nena Winand.
WFFS was first identified in Warmbloods, a group of mid-sized sport horse breeds developed in Europe for Olympic equestrian disciplines such as dressage, show jumping, and eventing. The term “warmblood” refers to their temperament and ancestry, a blend of heavy draft (“cold-blooded”) and lighter Arabian and Thoroughbred (“hot-blooded”) horses, not to body temperature. The frequency of the mutation in Warmbloods has been estimated at approximately 6.4%.
Affected foals have extremely fragile skin that tears and ulcerates from contact with normal surroundings. Lesions can appear anywhere on the body but are most common over pressure points, and they may also occur on the gums and other mucous membranes. The joints are abnormally lax and hyperextensible, especially the fetlocks, which usually prevents the foal from standing normally. There is no cure. Affected foals develop severe infections and increasing pain, and they typically die or are euthanized within 3 to 8 days of birth.
WFFS is inherited as an autosomal recessive trait, so a foal must inherit one copy of the mutation from each parent to be affected. Carriers show no signs of the disorder, so DNA testing is the only way to identify them. Screening breeding stock allows breeders to avoid pairings (n/WFFS x n/WFFS) that carry a 25% risk of producing an affected foal.
Possible results
| Genotype | Description |
|---|---|
| WFFS/WFFS | Affected: Horse has two copies of the WFFS variant and is expected to develop signs of the disorder. |
| n/WFFS | Carrier: Horse has one copy of the WFFS variant and is not expected to show signs of the disorder. Each offspring has a 50% chance of inheriting the variant. |
| n/n | Clear: Horse does not carry the WFFS variant and cannot pass it on to offspring. |
Breeds Affected
Warmblood
Reference
[PMID: 31113555]