Foot ProblemsClinical and genetic investigation of Connemara hoof wall separation syndrome
Section snippets
Take-home message
Hoof wall separation syndrome is an autosomal recessive condition in Connemara foals. A genetic test will allow accurate diagnosis and prevention of future cases.
Materials and Methods
Samples of DNA in addition to pedigrees and photographs were collected from 330 Connemara ponies around the world, both affected (cases; n=15) and unaffected (controls; n=315). Twelve cases and 24 controls were genotyped on the Illumina Equine 74K single nucleotide polymorphism (SNP) array. Although small, these groups provided sufficient power to identify a genome-wide significant candidate region of association. Three additional affected foals and five obligate carriers were subsequently
Results
A region of homozygosity (1.8 Mb) was identified in all 15 affected foals, consistent with an autosomal recessive mode of inheritance. Next-generation sequence data from affected and control ponies across the region is currently being analyzed for putative functional variants.
Discussion and Conclusion
Hoof wall separation syndrome is an autosomal recessive condition in Connemara foals. A genetic test will allow accurate diagnosis and prevention of future cases.