OMIA 000175-9796 : Cerebellar abiotrophy in Equus caballus

In other species: dog , sheep , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600224

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: Also known as neonatal cerebellar cortical degeneration (NCCD)

Species-specific symbol: CA

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MUTYH mutY DNA glycosylase Equus caballus 2 NC_009145.3 (12981762..13140182) MUTYH Homologene, Ensembl, NCBI gene

Variants

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

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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
Arabian Bashkir Curly Horse Welsh Pony Cerebellar abiotrophy MUTYH regulatory A SNP "located in exon 4 of TOE1 and approximately 1200 base pairs upstream of MUTYH, adjacent to a possible binding site for the transcription factor GATA2" 2011 21126570

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 Scott, E.Y., Penedo, M.C., Murray, J.D., Finno, C.J. :
Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy. Cerebellum 16:462-472, 2017. Pubmed reference: 27709457. DOI: 10.1007/s12311-016-0823-8.
2016 Sadaba, S.A., Madariaga, G.J., Botto, C.M., Carino, M.H., Zappa, M.E., García, P.P., Olguín, S.A., Massone, A., Díaz, S. :
First report of cerebellar abiotrophy in an Arabian foal from Argentina. Open Vet J 6:259-262, 2016. Pubmed reference: 28116251. DOI: 10.4314/ovj.v6i3.17.
2014 Tarr, C.J., Thompson, P.N., Guthrie, A.J., Harper, C.K. :
The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Vet J 46:512-4, 2014. Pubmed reference: 24033554. DOI: 10.1111/evj.12177.
2013 Cavalleri, J.M., Metzger, J., Hellige, M., Lampe, V., Stuckenschneider, K., Tipold, A., Beineke, A., Becker, K., Distl, O., Feige, K. :
Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses. BMC Vet Res 9:105, 2013. Pubmed reference: 23702154. DOI: 10.1186/1746-6148-9-105.
2011 Brault, L.S., Penedo, M.C. :
The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds. Equine Vet J 43:727-31, 2011. Pubmed reference: 21496100. DOI: 10.1111/j.2042-3306.2010.00349.x.
Brault, LS., Cooper, CA., Famula, TR., Murray, JD., Penedo, MC. :
Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH. Genomics 97:121-129, 2011. Pubmed reference: 21126570. DOI: 10.1016/j.ygeno.2010.11.006.
Brault, LS., Famula, TR., Penedo, MC. :
Inheritance of cerebellar abiotrophy in Arabians. Am J Vet Res 72:940-4, 2011. Pubmed reference: 21728855. DOI: 10.2460/ajvr.72.7.940.
2006 Blanco, A., Moyano, R., Vivo, J., Flores-Acuña, R., Molina, A., Blanco, C., Monterde, J.G. :
Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy. J Vet Med A Physiol Pathol Clin Med 53:286-7, 2006. Pubmed reference: 16901270. DOI: 10.1111/j.1439-0442.2006.00836.x.
1995 Gerber, H., Gaillard, C., Fatzer, R., Marti, E., Pfistner, B., Sustronck, B., Ueltschi, G., Meier, H.P., Herholz, C., Straub, R., Geissbuhler, U., Gerber, V. :
Cerebellar abiotrophy in pure-bred arabians [German] Pferdeheilkunde 11:423-431, 1995.
1987 DeBowes, R.M., Leipold, H.W., Turner-Beatty, M. :
Cerebellar abiotrophy. Vet Clin North Am Equine Pract 3:345-52, 1987. Pubmed reference: 3497695.
1974 Baird, J.D., Mackenzie, C.D. :
Cerebellar hypoplasia and degeneration in part Arab horses Australian Veterinary Journal 50:25-28, 1974. Pubmed reference: 4819469.
1973 Palmer, A.C., Blakemore, W.F., Cook, W.R., Platt, H., Whitwell, K.E. :
Cerebellar hypoplasia and degeneration in the young Arab horses: clinical and neuropathological features Veterinary Record 93:62-66, 1973. Pubmed reference: 4748678.

Edit History


  • Created by Frank Nicholas on 17 Dec 2010
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011