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Article

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States.

Genes - 18 Dec 2020

Reiter Simone, Wallner Barbara, Brem Gottfried, Haring Elisabeth, Hoelzle Ludwig, Stefaniuk-Szmukier Monika, Długosz Bogusława, Piórkowska Katarzyna, Ropka-Molik Katarzyna, Malvick Julia, Penedo Maria Cecilia T, Bellone Rebecca R

Abstract excerpt

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate...

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PMID: 33353040
DOI: 10.3390/genes11121518
PMCID: PMC7766603

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Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States.PMID 33353040Read ↗

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