OMIA:002663-9615 : Dystonia-ataxia syndrome, paroxysmal, TNR-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 619653 (trait) , 601995 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Christen et al. (2023): "Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype."

Clinical features: Christen et al. (2023): "Four Weimaraner dogs (3 males and 1 female) from three different litters were presented for episodes of abnormal gait characterized by increased muscle contractions (dystonia), ataxia, and hypermetria, leading to occasional collapse. Kyphosis and low head carriage were also consistent features... . ... The age of onset was 3 to 7 months. Increased emotional arousal or exercise was reported to trigger the abnormal episodes, which could occur multiple times daily for 5 to 15 minutes. Two dogs displayed intermittent anisocoria associated with the episodes. Resting physical and neurological examinations were unremarkable in all cases, although the reported abnormalities were elicited by short periods of exercise in 3 dogs. Results of diagnostic investigations, including hematology, biochemistry, urine organic acids, lactate and pyruvate levels, enzymatic testing for storage diseases, acetylcholine receptor antibodies, muscle and nerve biopsies, MRI (brain and spinal cord), cerebrospinal fluid analysis, and electrophysiology, were mainly unremarkable"

Breed: Weimaraner (Dog) (VBO_0201401).
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
TNR tenascin R Canis lupus familiaris 7 NC_051811.1 (23467664..23871975) TNR Homologene, Ensembl , NCBI gene

Variants

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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
1543 Weimaraner (Dog) Dystonia–ataxia syndrome, paroxysmal TNR insertion, small (<=20) Naturally occurring variant UU_Cfam_GSD_1.0 7 g.23940980dup c.831dup p.(N278Qfs*38) XM_038542431.1; XP_038398359.1; published as g.23940980dupC; c.831dupC 2023 37023257

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002663-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Christen, M., Gutierrez-Quintana, R., Green, M., Faller, K.M.E., Lowrie, M., Rusbridge, C., Bossens, K., Mellersh, C., Pettitt, L., Heinonen, T., Lohi, H., Jagannathan, V., Leeb, T. :
A TNR frameshift variant in Weimaraner dogs with an exercise-induced paroxysmal movement disorder. Mov Disord , 2023. Pubmed reference: 37023257. DOI: 10.1002/mds.29391.

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  • Created by Imke Tammen2 on 08 Apr 2023
  • Changed by Imke Tammen2 on 08 Apr 2023