UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Warmblood Fragile Foal Syndrome Type 1

Introduction

Warmblood Fragile Foal Syndrome Type 1 (WFFS) is a fatal genetic defect of connective tissue characterized by hyperextensible, abnormally thin, fragile skin and mucous membranes (tissue that lines cavities and covers organs) that cause extensive lesions throughout the body. Other signs of the disease include hyperextension of limb articulations, floppy ears, hydrops (accumulation of fluid in fetus), subcutaneous emphysema, hematomas and premature birth. Signs of the disease are present from birth. Newborn foals have to be euthanized because of poor prognosis for an untreatable condition.

WFFS is caused by a mutation (c.2032G > A) in the PLOD1 gene (procollagen-lysine, 2-oxoglutarate 5-dioxygenase1) that codes for an enzyme important for biosynthesis of collagen, which are complex molecules that provide strength and support to many body tissues. The mutation impairs normal function of the enzyme, which leads to development of the disease. In humans, mutations in this gene are associated with a similar defect known as Ehlers-Danlos Syndrome Type VI.

WFFS is inherited as an autosomal recessive defect, which means that both males and females are equally affected and that two copies of the mutation (WFFS/WFFS) are needed to cause the disorder. Horses that carry one copy (N/WFFS) of this recessive mutation are normal but can transmit the mutation to 50% of their offspring.

The Veterinary Genetics Laboratory offers a DNA test for WFFS. The test benefits clinicians to help with diagnosis of WFFS. The test benefits breeders and owners to identify carriers of WFFS and to select mating pairs accordingly to avoid producing affected foals. Mating between two carriers has a 25% chance of producing affected foals.

Testing recommendation: The test is presently recommended for all Warmblood/Sport Horse populations. The WFFS mutation was found to occur in Hanoverian, Selle Français, KWPN, Oldenburg and Westphalian lines, according to Dr. N. Winand, who identified the molecular basis of this defect.  Because these and related populations are central to all Warmblood/Sport Horse registries, the mutation may be found in additional breeds. The incidence of carriers in Warmblood horses is estimated to be around 9-11%.  

Research at the VGL has identified a low carrier frequency of the WFFS mutation in Thoroughbreds and Knabstruppers. The investigation on breed distribution of this mutation is ongoing. Information about other breeds will be updated.

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Results reported as:

N/N No copies of the WFFS mutation; animal is normal.
N/ WFFS 1 copy of the WFFS mutation; animal is normal but is a carrier. Horse can pass on the mutation to 50% of offspring.
WFFS/WFFS 2 copies of the WFFS mutation; horse is affected.

References:

Winand N. Identification of the causative mutation for inherited connective tissue disorders in equines. United States Department Of Commerce Application Number: 61/486,464; (Filing Date: May 16th, 2011).

Monthoux C, S Brot, M Jackson, U Bleul, J Walter. (2015). Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Veterinary Research 11:12. DOI 10.1186/s12917-015-0318-8.

Note: The Warmblood Fragile Foal Syndrome test is a patented test in Germany, France and the UK. The Veterinary Genetics Laboratory does not offer the WFFS test to clients residing in Germany, France and the UK.

 
Veterinary Genetics Laboratory Tel 530-752-2211 Email VGL