In 2017, researchers in Switzerland used positional mapping and whole genome sequencing to isolate the genetic cause of Naked Foal Syndrome (NFS) in the Akhal-Teke breed. The findings identified a variant only present in Akhal-Tekes called “ST14:c.388G>T” and it is deemed what is known as a nonsense variant related to the ST14 gene.
“The ST14 gene has essential roles in the interfollicular epidermis by contributing to epidermal barrier formation as well as for hair follicle development.” A variation or deficiency in the expression of this gene can cause fatal skin, heart, digestive, and immune system changes during development.
This genetic variation was found to be autosomally recessive and, thanks to this study, it can now be easily tested for in Akhal-Teke horses to support strategic breeding practices and avoid the perpetuation of the variation.
Read the full study here:
Read more about NFS and NFS testing: