OMIA:001723-9940 : Ataxia, familial episodic spinocerebellar in Ovis aries (sheep)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Species-specific name: familial episodic ataxia
Inheritance: Based on the results of mating the two unaffected rams (that had previously produced affected offspring) with unrelated ewes, Mayhew et al. (2012) concluded that this disorder is "a dominant trait, with incomplete penetration of observed clinical signs and variable expressivity."
Molecular basis: Dittmer et al. (2017): "Using whole genome sequencing of two half-sib affected lambs, their sire, and their two normal dams, a heterozygous C>T transition at OAR10:77593415 (Oar_v3.1) in exon 1 of the fibroblast growth factor 14 (FGF14) gene (c.46C>T) was identified. The c.46C>T transition resulted in a premature stop codon at position 16 of the 247 amino acid FGF14 protein (p.Q16*). PCR and Sanger sequencing was used to genotype an additional 20 clinically affected animals, demonstrating all lambs carried the c.46C>T variant but 1 clinically more severely affected inbred lamb was homozygous (TT)."
Clinical features: As reported by Mayhew et al. (2012) "Some lambs were noted to be abnormal at birth, both on home properties and in the experimental flock. They tended to adopt a head and neck extended posture and were slow to get to their feet and suckle when they then became more or less normal. When forced to move, they and other more robust lambs elicited an asymmetric gait, base-wide extensor hypertonia (hypometria) of thoracic limbs and flexor hypertonia (hypermetria) of pelvic limbs. In some there was nystagmus. After several metres of asymmetric ataxic gait they would fall to one side, sometimes adopting a sitting position. Recovery usually occurred in one to several minutes. As lambs aged, it became more difficult to elicit the episodes of dysfunction and by 6 months of age they appeared normal".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF14||fibroblast growth factor 14||Ovis aries||10||NC_056063.1 (78113502..77464265)||FGF14||Homologene, Ensembl , NCBI gene|
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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.
|OMIA Variant ID||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|
|941||Romney Marsh (Sheep)||Familial episodic ataxia||FGF14||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||10||g.88095843G>A||c.46C>T||p.(Q16*)||Oar_v3.1 position is g.77593415||2017||29253853||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
Cite this entry
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||Dittmer, K.E., Jolly, R.D., Mayhew, I.G., Ridler, A.L., Chernyavtseva, A., Garrick, D.J., Blair, H.T. :|
|Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. PLoS One 12:e0190030, 2017. Pubmed reference: 29253853 . DOI: 10.1371/journal.pone.0190030.|
|2013||Mayhew, I.G., Jolly, R.D., Burnham, D., Ridler, A.I., Poff, G.J., Blair, H.T. :|
|Familial episodic ataxia in lambs. N Z Vet J 61:107-10, 2013. Pubmed reference: 22985028 . DOI: 10.1080/00480169.2012.717501.|
- Created by Frank Nicholas on 17 Oct 2012
- Changed by Frank Nicholas on 19 Jan 2018
- Changed by Imke Tammen2 on 10 Sep 2021