A canine BCAN microdeletion associated with episodic falling syndrome

J L Gill; K L Tsai; C Krey; R E Noorai; J F Vanbellinghen; L S Garosi; G D Shelton; L A Clark; Robert J Harvey

doi:10.1016/j.nbd.2011.07.014

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A canine BCAN microdeletion associated with episodic falling syndrome

Journal article

Open access

Peer reviewed

A canine BCAN microdeletion associated with episodic falling syndrome

J L Gill, K L Tsai, C Krey, R E Noorai, J F Vanbellinghen, L S Garosi, G D Shelton, L A Clark and Robert J Harvey

Neurobiology of Disease, Vol.45(1), pp.130-136

2012

DOI: https://doi.org/10.1016/j.nbd.2011.07.014

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Abstract

brevican

BCAN

episodic falling syndrome

Cavalier King Charles spaniels

microdeletion

Episodic falling syndrome (EFS) is a canine paroxysmal hypertonicity disorder found in Cavalier King Charles spaniels. Episodes are triggered by exercise, stress or excitement and characterized by progressive hypertonicity throughout the thoracic and pelvic limbs, resulting in a characteristic 'deer-stalking' position and/or collapse. We used a genome-wide association strategy to map the EFS locus to a 3.48. Mb critical interval on canine chromosome 7. By prioritizing candidate genes on the basis of biological plausibility, we found that a 15.7. kb deletion in BCAN, encoding the brain-specific extracellular matrix proteoglycan brevican, is associated with EFS. This represents a compelling causal mutation for EFS, since brevican has an essential role in the formation of perineuronal nets governing synapse stability and nerve conduction velocity. Mapping of the deletion breakpoint enabled the development of Multiplex PCR and Multiplex Ligation-dependent Probe Amplification (MLPA) genotyping tests that can accurately distinguish normal, carrier and affected animals. Wider testing of a larger population of CKCS dogs without a history of EFS from the USA revealed that carriers are extremely common (12.9%). The development of molecular genetic tests for the EFS microdeletion will allow the implementation of directed breeding programs aimed at minimizing the number of animals with EFS and enable confirmatory diagnosis and pharmacotherapy of affected dogs. © 2011 Elsevier Inc.

Details

Title: A canine BCAN microdeletion associated with episodic falling syndrome
Authors: J L Gill (Author) - University College London, United Kingdom
K L Tsai (Author) - Clemson University, United States
C Krey (Author)
R E Noorai (Author) - Clemson University, United States
J F Vanbellinghen (Author) - Institut de Pathologie et de Génétique ASBL, Belgium
L S Garosi (Author) - Davies Veterinary Specialists, United Kingdom
G D Shelton (Author) - University of California, United States
L A Clark (Author) - Clemson University, United States
Robert J Harvey (Author) - University College London, United Kingdom
Publication details: Neurobiology of Disease, Vol.45(1), pp.130-136
Publisher: Academic Press
Date published: 2012
DOI: 10.1016/j.nbd.2011.07.014
ISSN: 0969-9961
Copyright note: Copyright © Gill et al. This is an open-access article distributed under the terms of the Creative Commons Attribution 3.0 License.
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99451179002621
Output Type: Journal article

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