logo

"Warmblood" Fragile Foal Syndrome (ffs)

Gene or Region: PLOD1

Reference Variant: C

Mutant Variant: T

Affected Breeds: Warmblood and Other Breeds

Research Confidence: High - Findings reproduced multiple studies

Explanation of Results: ffs/ffs = homozygous for Fragile Foal Syndrome, trait expressed ffs/N = heterozygous for Fragile Foal Syndrome, carrier N/N = no variant detected

Warmblood Fragile Foal Syndrome: Genetic Testing and Health Insights for Horse Breeders

Fragile Foal Syndrome is a connective tissue disorder resulting in joint laxity and extremely thin skin that is only loosely connected to the body. The skin is easily torn, resulting in lacerations, hematomas, and seromas across the foal. Affected foals are euthanized shortly after birth. As Fragile Foal Syndrome is a recessive disorder, horses must inherit two copies (ffs/ffs) to show the disease. Horses with only one allele (ffs/N) are known as carriers due to their ability to produce affected offspring.

Gene Information

PLOD1 is an enzyme involved in collagen synthesis. Mutations in mice and humans result in similar connective tissue disorders. The mutation observed in horses alters an amino acid, likely disrupting the function of the encoded protein.

References

Monthoux C et al., “Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.” (2015) BMC Vet Res. 11: 12. PMID: 256373371.

More Horse Health