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Naked Foal Syndrome (NFS)
| Acronym: | NFS |
| Gene: | ST14 |
| Mutation: | c.388G>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Naked foal syndrome (NFS) is an inherited skin disease that affects horses, primarily the Akhal-Teke breed. Horses with NFS are born hairless and have abnormal teeth development, digestive disorder accompanied by persistent diarrhoea, and laminitis-like problems. NFS is almost always fatal within weeks of birth, but there are some cases of survival up to three years of age. NFS is caused by a genetic mutation in the suppressor of tumorigenicity 14 (ST14) gene, which has a role in the epidermal barrier formation in the skin and hair follicle development. The nonsense mutation in the ST14 gene causes a premature stop codon, making a truncated protein with impaired function.
NFS is inherited as an autosomal recessive trait, which means that two copies of the mutation are needed for a horse to be affected. Horses having only one copy of the mutation will not be affected but are carriers of the disease. NFS affects the Akhal-Teke breed, a versatile breed used in various horse disciplines. The disease is incurable, but early detection by genetic testing can help identify horses that are carriers of the disease and prevent further breeding by careful selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Bauer, A., Hiemesch, T., Jagannathan, V., Neuditschko, M., Bachmann, I., Rieder, S., … Welle, M. M. (2017). A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome . G3: Genes|Genomes|Genetics, 7(4), 1315–1321. doi:10.1534/g3.117.039511
Leisson, K., Alev, K., Kaasik, P., Jaakma, Ü., & Seene, T. (2010). Myosin heavy chain pattern in the Akhal-Teke horses. Animal, 5(05), 658–662. doi:10.1017/s1751731110002375