OMIA 002096-9796 : Naked foal syndrome in Equus caballus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 602400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Species-specific symbol: NFS

History: Bauer et al. (2017): "The first records of hairless Akhal-Teke foals date back to 1938 and since then the number of such foals has increased steadily. Many horses with NFS might have been registered as stillborn or weak born or not been reported at all (Kuznetcova et al. 2006)."

Inheritance: Bauer et al. (2017): "NFS is inherited as a monogenic autosomal recessive trait."

Mapping: "Genotyping of 4 affected horses and 4 obligate carriers . . . by GeneSeek/NeoGene on the Affymetrix equine 670 k SNP array containing 670,796 evenly distributed markers" enabled Bauer et al. (2017) to map "the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome".

Molecular basis: Bauer et al. (2017): "Whole genome sequencing of two affected horses, two obligate carriers, and 75 control horses from other breeds revealed a single non-synonymous genetic variant on the chromosome 7 segment that was perfectly associated with NFS. The affected horses were homozygous for ST14:c.388G>T, a nonsense variant that truncates more than 80% of the open reading frame of the ST14 gene (p.Glu130*). The variant leads to partial nonsense mediated decay of the mutant transcript."

Clinical features: Bauer et al. (2017): "Affected horses had almost no hair and showed a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 years of age. It is not clear whether a specific pathology caused the premature deaths."

Breed: Akhal-Teke.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ST14 suppression of tumorigenicity 14 (colon carcinoma) Equus caballus 7 NC_009150.3 (39689396..39728855) ST14 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Akhal-Teke Naked foal syndrome ST14 nonsense (stop-gain) EquCab2 7 c.388G>T p.E130* 2017 28235824

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 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.
2011 Leisson, K., Alev, K., Kaasik, P., Jaakma, Ü., Seene, T. :
Myosin heavy chain pattern in the Akhal-Teke horses. Animal 5:658-62, 2011. Pubmed reference: 22439988. DOI: 10.1017/S1751731110002375.
2007 Kuznetcova, Y. :
Again about sphynxes. Akhal-Teke Inform. :164-165, 2007.
2006 Kuznetcova, Y. , Kozyreva, M., Aleksandrova, N. :
The Stavropol Sphynx Akhal-Teke Inform. :144-147, 2006.

Edit History


  • Created by Frank Nicholas on 28 Feb 2017
  • Changed by Frank Nicholas on 28 Feb 2017
  • Changed by Tosso Leeb on 01 Mar 2017