OMIA 001163-9796 : Myeloencephalopathy, degenerative in Equus caballus

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Equine degenerative myeloencephalopathy

Species-specific symbol: EDM

Inheritance: Posbergh et al. (2018): "The ABD [autozygosity by difference] score difference pattern suggests an autosomal recessive pattern of inheritance [in the Caspian breed] . . . [but] . . . the recessive inheritance pattern seen here contrasts with other studies of EDM in other breeds".

Mapping: Using the novel Autozygosity-by-Difference method, Posbergh et al. (2018) mapped this disorder in the Caspian breed to ECA3:71,381,589-73,566,775 (equCab2), which contains just one gene, namely ADGRL3, encoding adhesion G protein-coupled receptor L3.

Molecular basis: Posbergh et al. (2018) reported a positional candidate missense SNP in the ADGRL3 gene at ECA3:71770084; c.?A>G; p.Asn?Ser. Noting that the only two surviving homozygotes for this variant within this breed do not show any clinical signs, Posbergh et al. (2018) cautiously described the variant as "a genetic risk factor, working in conjunction with environmental factors, in the development of the EDM in the Caspian breed".

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.
2018 Posbergh, C.J., Pollott, G.E., Southard, T.L., Divers, T.J., Brooks, S.A. :
A Nonsynonymous Change in Adhesion G Protein–Coupled Receptor L3 Associated With Risk for Equine Degenerative Myeloencephalopathy in the Caspian Horse Journal of Equine Veterinary Science 70:96-100, 2018. DOI: 10.1016/j.jevs.2018.08.010.
2017 Finno, C.J., Kaese, H.J., Miller, A.D., Gianino, G., Divers, T., Valberg, S.J. :
Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease. Vet Ophthalmol 20:304-309, 2017. Pubmed reference: 27491953. DOI: 10.1111/vop.12417.
2011 Finno, C.J., Higgins, R.J., Aleman, M., Ofri, R., Hollingsworth, S.R., Bannasch, D.L., Reilly, C.M., Madigan, J.E. :
Equine degenerative myeloencephalopathy in Lusitano horses. J Vet Intern Med 25:1439-46, 2011. Pubmed reference: 22092640. DOI: 10.1111/j.1939-1676.2011.00817.x.
1997 Miller, M.M., Collatos, C. :
Equine degenerative myeloencephalopathy Veterinary Clinics of North America - Equine Practice 13:43 ff., 1997.
1996 Picavet, M.T., Debaerdemaeker, P., Sustronck, B., Boussauw, B., Wilderjans, H. :
Equine degenerative myeloencephalopathy Vlaams Diergeneeskundig Tijdschrift 65:144-147, 1996.
1992 Blythe, L.L., Craig, A.M. :
Equine Degenerative Myeloencephalopathy .2. Diagnosis and Treatment Compendium on Continuing Education for the Practicing Veterinarian 14:1633-1636, 1992.
1991 Blythe, L.L., Hultgren, B.D., Craig, A.M., Appell, L.H., Lassen, E.D., Mattson, D.E., Duffield, D. :
Clinical, Viral, and Genetic Evaluation of Equine Degenerative Myeloencephalopathy in a Family of Appaloosas Journal of the American Veterinary Medical Association 198:1005-1013, 1991. Pubmed reference: 2032902.
1990 Dill, S.G., Correa, M.T., Erb, H.N., Delahunta, A., Kallfelz, F.A., Waldron, C. :
Factors Associated with the Development of Equine Degenerative Myeloencephalopathy American Journal of Veterinary Research 51:1300-1305, 1990. Pubmed reference: 2386332.
1988 Hultgren, B.D., Appell, L.H., Wagner, P.C., Blythe, L.L., Watrous, B.J., Slizeski, M.L., Duffield, D.A., Goldie, P., Clarkson, D., Shell, D. :
Current research topics in Equine Genetics, Part 2 Equine Practice 10:19-22, 1988.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 27 Sep 2018