OMIA:001270-9913 : Convulsions and ataxia, familial in Bos taurus (taurine cattle)

Categories: Nervous system phene , Behaviour / neurological phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601011 (gene) , 617106 (trait) , 108500 (trait) , 183086 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Autosomal dominant with incomplete penetrance

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Bovine familial convulsions and ataxia; cerebellar abiotropy

Molecular basis: Reith et al. (2024): "Whole-genome sequencing was performed on the [Angus] sire, six affected and seven unaffected
paternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaffected calves (N = 7) and parents of the sire."

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CACNA1A calcium voltage-gated channel subunit alpha1 A Bos taurus - no genomic information (-..-) CACNA1A 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.

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 Year Published PubMed ID(s) Acknowledgements
1693 Angus (Cattle) Bovine familial convulsions and ataxia CACNA1A BFCA nonsense (stop-gain) Naturally occurring variant ARS-UCD1.3 7 NC_037334.1:g.12367906C>T NM_001075129.1:c.5041C>T NP_001068597.1:p.(R1681*) 2024 38426585

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001270-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2024 Reith, R.R., Beever, J.E., Paschal, J.C., Banta, J., Porter, B.F., Steffen, D.J., Hairgrove, T.B., Petersen, J.L. :
A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle. Anim Genet 55:344-351, 2024. Pubmed reference: 38426585. DOI: 10.1111/age.13409.
2004 Fournier, D., Keppie, N., Simko, E. :
Bovine familial convulsions and ataxia in Saskatchewan and Alberta. Can Vet J 45:845-8, 2004. Pubmed reference: 15532885.
1996 Wallace, M.A., Scarratt, W.K., Crisman, M.V., Prater, D.A., Jortner, B.S. :
Familial convulsions and ataxia in an Aberdeen Angus calf Progress in Veterinary Neurology 7:145-148, 1996.
1968 Barlow, R.M., Linklater, K.A., Young, G.B. :
Familial convulsions and ataxia in Angus calves Veterinary Record 83:60-65, 1968.
Rafferty G.C. :
Familial convulsions and ataxia in Angus calves Veterinary Record 83:134 only, 1968.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 08 May 2024