Naked Foal Syndrome (NFS) in Akhal-Teke Horses

Vidhya Jagannathan, University of Bern

Naked Foal Syndrome (NFS) has been reported in the Akhal-Teke horse breed since 1938. Affected foals are almost completely hairless. They often die within their first weeks or months of life due to unknown reasons. The pedigrees of affected foals suggested an autosomal recessive mode of inheritance. We collected samples from 5 affected and more than 70 non-affected Akhal-Teke horses. We determined whole genome sequences of 2 affected horses and 2 obligate carriers and compared them to genome sequences from 77 control horses of diverse other breeds. Filtering for disease-associated variants identified a nonsense variant in a highly plausible functional candidate gene. We genotyped this variant in a larger cohort and found perfect association with the phenotype in >80 Akhal-Teke horses. The variant was absent from 400 horses of genetically diverse other breeds. Our data therefore suggest that this variant is indeed causative for NFS. A commercial diagnostic test is available to avoid non-intentional carrier x carrier matings. We will reveal the variant and present an updated analysis of our data at the meeting

Title: Naked Foal Syndrome (NFS) in Akhal-Teke horses

Submitter's E-mail Address:Vidhya.Jagannathan@vetsuisse.unibe.ch