OMIA 002096-9796 : Naked foal syndrome in Equus caballus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 602400 (trait) , 606797 (gene)

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: Linkage mapping using just three affected horses and their four parents, each genotyped with the Affymetrix equine 670 k SNP chip, followed by homozygosity mapping of the same three affected horses, enabled Bauer et al. (2017) to map "the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome". (FN thanks Emily Rogers, who provided the basis for the rewording of this entry, working under the supervision of Professor Ernie Bailey; 24 April 2020)

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." Transcript and protein sites correspond to the equine ST14 gene references XM_005611718.2 (cDNA) and XP_005611775.1 (protein). (FN thanks Emily Rogers, who provided the last sentence, working under the supervision of Professor Ernie Bailey; 24 April 2020)

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." Bauer et al. (2017) noted similarities to ST14 defects in other species: “Taken together, the ST14 gene has essential roles in the interfollicular epidermis by contributing to epidermal barrier formation as well as for hair follicle development. The observed phenotype in NFS-affected horses resembles the group of heterogeneous phenotypes caused by ST14 variants in humans and mice. However, in horses with NFS, the degree of alopecia is more severe than in human patients, whereas the ichthyosis is less pronounced, and suggested mainly by the clinical picture.” (FN thanks Emily Rogers, who provided all but the first sentence of this entry, working under the supervision of Professor Ernie Bailey; 24 April 2020)

Prevalence: The variant c.388G>T was homozygous in 5 affected horses and heterozygous in 10 obligate carriers. Testing of 191 other Akhal-Teke horses identified 165 homozygous for the reference sequence and 26 heterozygous for c.388G>T. This variant was not found among 400 horses of other breeds. (Bauer et al., 2017) (FN thanks Emily Rogers, who provided this contribution, working under the supervision of Professor Ernie Bailey; 24 April 2020)

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 second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Akhal-Teke Naked foal syndrome ST14 nonsense (stop-gain) Naturally occurring variant EquCab3.0 7 g.39710628G>T c.388G>T p.(E130*) XM_005611718.2 (c.388G>T); XP_005611775.1 (p.(E130*)) 2017 28235824 (FN thanks Emily Rogers for providing the genomic location (determined using BLAT with the XM_005611718.2 sequence against Equcab 3.0) and the sequence refs for the cDNA and protein variants, working under the supervision of Professor Ernie Bailey; 24 April 2020)

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
  • Changed by Frank Nicholas on 24 Apr 2020