A TNR frameshift variant in Weimaraner dogs with an exercise-induced paroxysmal movement disorder

Christen, M. et al. (2023) A TNR frameshift variant in Weimaraner dogs with an exercise-induced paroxysmal movement disorder. Movement Disorders, 38(6), pp. 1094-1099. (doi: 10.1002/mds.29391) (PMID:37023257)

Abstract

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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Faller, Ms Kiterie and Gutierrez Quintana, Mr Rodrigo
• Authors: 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., and Leeb, T.
• College/School: College of Medical Veterinary and Life Sciences > School of Biodiversity, One Health & Veterinary Medicine
• Journal Name: Movement Disorders
• Publisher: Wiley
• ISSN: 0885-3185
• ISSN (Online): 1531-8257
• Published Online: 06 April 2023
• Copyright Holders: Copyright © 2023 The Authors
• First Published: First published in Movement Disorders 38(6):1094-1099
• Publisher Policy: Reproduced under a Creative Commons License