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Lethal hairlessness in Akhal-Teke horses

Symptoms:

  • Sparse coat (very little or no hair)
  • Ichthyosis (dry, thickened skin)

General Information:

  • Variation in ST14 gene leads to hairlessness in horses and early death of affected foals.
  • Affected horses usually die shortly after birth or before the age of 3 years.
  • The exact cause for the early death is not yet known.
  • NFS was first reported in 1938.

Inheritance: autosomal recessive

→ Only horses with two copies of the variant (nfs/nfs) are affected. Animals with only one copy (N/nfs) are clinically healthy carriers.

Possible Genotypes:

Genotype: The horse is: Effects:
N/N normal. The horse has no copies of the genetic variant causitive for NFS and therefore cannot pass it on to its offspring.
N/nfs a carrier. The horse is clinically healthy.  It has one copy of the genetic variant causitive for NFS, which will be passed on to its offspring with a probability of 50%.
nfs/nfs affected. The horse is affected and has two copies of the genetic variant causitive for NFS.  If the animal lives long enough to reproduce, the variant will be passed on to all offspring. All offspring will be carriers (N/nfs).

 

 

Recommendation:

  • Carriers may be bred to normal animals (N/nfs x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or genetically normal.
  • Breeding two carriers (N/nfs x N/nfs) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (nfs/nfs) should not be used for breeding.

Test information: This test detects the change of a single basepair in the ST14 gene.

Bauer, A., Hiemesch, T., Jagannathan, V., Neuditschko, M., Bachmann, I., Rieder, S., Mikko, S., Penedo, M.C., Tarasova, N., Vitková, M., Sirtori, N., Roccabianca, P., Leeb, T., Welle, M.M. : A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome. G3 (Bethesda) 7:1315-1321, 2017. Pubmed reference: 28235824. DOI: 10.1534/g3.117.039511.

Further information is available at Online Mendelian Inheritance in Animals.

Breeds affected:

Akhal-Teke

Test #: H120

Samples: Blood, Hair

Special Price: 30 € (net)

Time required: 7 - 10 days

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