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OMIA 001467-9615 : Neuropathy, sensory ataxic in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 590100 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Mitochondrial

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Species-specific symbol: SAN

Inheritance: This disorder showed maternal transmission: all affected dogs in a pedigree traced back to a single female, which is consistent with mitochondrial inheritance.

Molecular basis: Baranowska et al. (2009) showed that this disorder is due to a deletion of a single base (at position 5304) in the mitochondrial gene for transfer RNA for the amino acid tyrosine (called tRNA-Tyr).

Breed: Golden Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
tRNA-Tyr_mitochondrial Canis lupus familiaris - no genomic information (-..-) tRNA-Tyr_mitochondrial Ensembl

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.
2009 Baranowska, I., Jäderlund, K.H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N.G., Andersson, G., Wagner, E.G., Hedhammar, A., Wibom, R., Andersson, L. :
Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene. PLoS Genet 5:e1000499, 2009. Pubmed reference: 19492087. DOI: 10.1371/journal.pgen.1000499.
2007 Jäderlund, K.H., Orvind, E., Johnsson, E., Matiasek, K., Hahn, C.N., Malm, S., Hedhammar, A. :
A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy. J Vet Intern Med 21:1307-15, 2007. Pubmed reference: 18196741.

Edit History


  • Created by Frank Nicholas on 16 Jun 2009
  • Changed by Frank Nicholas on 29 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Imke Tammen2 on 26 Sep 2021
  • Changed by Imke Tammen2 on 19 Mar 2022