Christen, Matthias; Gutierrez-Quintana, Rodrigo; Green, Matthew; Faller, Kiterie M E; Lowrie, Mark; Rusbridge, Clare; Bossens, Kenny; Mellersh, Cathryn; Pettitt, Louise; Heinonen, Tiina; Lohi, Hannes; Jagannathan, Vidhya; Leeb, Tosso (2023). A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Movement disorders, 38(6), pp. 1094-1099. Wiley 10.1002/mds.29391
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Movement_Disorders_-_2023_-_Christen_-_A_TNR_Frameshift_Variant_in_Weimaraner_Dogs_with_an_Exercise_Induced_Paroxysmal.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (579kB) | Preview |
BACKGROUND
Some paroxysmal movement disorders remain without an identified genetic cause.
OBJECTIVES
The aim was to identify the causal genetic variant for a paroxysmal dystonia-ataxia syndrome in Weimaraner dogs.
METHODS
Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog was used to identify private homozygous variants against 921 control genomes.
RESULTS
Four Weimaraners were presented for episodes of abnormal gait. Results of examinations and diagnostic investigations were unremarkable. 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.
CONCLUSIONS
We report the association of a TNR variant with a paroxysmal dystonia-ataxia syndrome in Weimaraners. It might be relevant to include sequencing of this gene in diagnosing humans with unexplained paroxysmal movement disorders. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
Graduate School: |
Graduate School for Cellular and Biomedical Sciences (GCB) |
UniBE Contributor: |
Christen, Matthias (A), Jagannathan, Vidya, Leeb, Tosso |
Subjects: |
500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture |
ISSN: |
1531-8257 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
11 Apr 2023 12:17 |
Last Modified: |
23 Aug 2023 15:34 |
Publisher DOI: |
10.1002/mds.29391 |
PubMed ID: |
37023257 |
Uncontrolled Keywords: |
canine dystonia episodic ataxia extracellular brain matrix neurogenetics precision medicine |
BORIS DOI: |
10.48350/181591 |
URI: |
https://boris.unibe.ch/id/eprint/181591 |
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