OMIA 002120-9615 : Polyneuropathy, NDRG1-related in Canis lupus familiaris
Bruun et al. (2013) investigated the same disorder in Alaskan Malumutes and reported a novel mutation in the same gene: "The coding sequence of the NDRG1 gene derived from one healthy and one affected Alaskan Malamute revealed a non-synonymous G>T mutation in exon 4 in the affected dog that causes a Gly98Val amino acid substitution." The causative variant in the Alaskan Malamute is c.293G>T.Prevalence: By genotyping archived samples, Jäderlund et al. (2017) showed that "historical and recent phenotypic polyneuropathy cases were carrying the same NDRG1-mutation [c.293G>T; p.Gly98Val]. The pedigree analysis showed that all affected Alaskan malamute cases with polyneuropathy could be traced back to one common ancestor of North American origin." Breeds: Alaskan Malamute, Greyhound. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NDRG1||N-myc downstream regulated 1||Canis lupus familiaris||13||NC_006595.3 (29745964..29689294)||NDRG1||Homologene, Ensembl, NCBI gene|
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.
|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|
|Greyhound||Polyneuropathy||NDRG1||deletion, small (<=20)||c.1080_1089del10||2010||20582309|
|Alaskan Malamute||Polyneuropathy||NDRG1||missense||CanFam3.1||13||g.29714606G>T||c.293G>T||p.G98V||2013||23393557||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||Jäderlund, K.H., Rohdin, C., Berendt, M., Stigen, Ø., Fredholm, M., Espenes, A., Bjerkås, I., Moe, L. :|
|Re-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs-old enemy or new entity? A case series. Acta Vet Scand 59:26, 2017. Pubmed reference: 28464941. DOI: 10.1186/s13028-017-0295-y.|
|2013||Bruun, C.S., Jäderlund, K.H., Berendt, M., Jensen, K.B., Spodsberg, E.H., Gredal, H., Shelton, G.D., Mickelson, J.R., Minor, K.M., Lohi, H., Bjerkås, I., Stigen, O., Espenes, A., Rohdin, C., Edlund, R., Ohlsson, J., Cizinauskas, S., Leifsson, P.S., Drögemüller, C., Moe, L., Cirera, S., Fredholm, M. :|
|A Gly98Val Mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy. PLoS One 8:e54547, 2013. Pubmed reference: 23393557. DOI: 10.1371/journal.pone.0054547.|
|2012||Rentmeister, K., Bilzer, T., Petri, S., Schanen, G., Fehr, M., Distl, O., Tipold, A. :|
|Hereditary polyneuropathy in the Alaskan Malamute. Tierarztl Prax Ausg K Kleintiere Heimtiere 40:26-34, 2012. Pubmed reference: 22331326.|
|2010||Drogemuller, C., Becker, D., Kessler, B., Kemter, E., Tetens, J., Jurina, K., Jaderlund, KH., Flagstad, A., Perloski, M., Lindblad-Toh, K., Matiasek, K. :|
|A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One 5:e11258, 2010. Pubmed reference: 20582309. DOI: 10.1371/journal.pone.0011258.|
|2009||Wakshlag, JJ., de Lahunta, A. :|
|Hereditary encephalomyelopathy and polyneuropathy in an Alaskan husky. J Small Anim Pract 50:670-4, 2009. Pubmed reference: 19954445. DOI: 10.1111/j.1748-5827.2009.00857.x.|
|1997||Braund, K.G., Shores, A., Lowrie, C.T., Steinberg, H.S., Moore, M.P., Bagley, R.S., Steiss, J.E. :|
|Idiopathic polyneuropathy in Alaskan Malamutes Journal of Veterinary Internal Medicine 11:243-249, 1997. Pubmed reference: 9298480.|
- Created by Frank Nicholas on 31 Aug 2017
- Changed by Frank Nicholas on 31 Aug 2017