First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.

ABSTRACT:

Background

Warmblood Fragile Foal Syndrome Type 1 (WFFS) is an autosomal recessive disorder reported previously only in warmbloods and thought to be caused by a variant in the gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1, c.2032G>A, p.Gly678Arg). Given the presentation of this Thoroughbred case, we hypothesised that a similar genetic mechanism caused this phenotype.

Objectives

To describe the pathological and genetic findings on a foal presenting to a veterinary practice in the UK with skin lesions similar to other Ehlers-Danlos Syndromes, including those documented for warmbloods with WFFS.

Study design

A single case report describing a genetic investigation.

Methods

A Thoroughbred foal presenting as dystocia was euthanised for multiple skin l

SUBMITTER: Grillos AS 

PROVIDER: S-EPMC9213567 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature