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Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model

Granger, N; Feliu-Pascual, A; Spicer, C; Ricketts, S; Hitti, R; Forman, O; Hersheson, J; Houlden, H

Authors

N Granger

A Feliu-Pascual

C Spicer

S Ricketts

R Hitti

O Forman

J Hersheson

H Houlden



Abstract

This study reports the first genetic variant in Miniature Schnauzer dogs responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. This discovery establishes a genotype/phenotype correlation in affected Miniature Schnauzers that can be used for the diagnosis of these dogs. It further supports the dog as a natural model of a human disease; in this instance, Charcot-Marie-Tooth disease. It opens avenues to search the biological mechanisms responsible for the disease and to test new therapies in a non-rodent large animal model. In particular, recent gene editing methods that led to the restoration of dystrophin expression in a canine model of muscular dystrophy could be applied to other canine models such as this before translation to humans.

Citation

Granger, N., Feliu-Pascual, A., Spicer, C., Ricketts, S., Hitti, R., Forman, O., …Houlden, H. (2019). Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ, 7, e7983. https://doi.org/10.7717/peerj.7983

Journal Article Type Article
Acceptance Date Oct 2, 2019
Publication Date Nov 21, 2019
Deposit Date Nov 28, 2019
Publicly Available Date Nov 28, 2019
Journal PeerJ
Publisher PeerJ
Peer Reviewed Peer Reviewed
Volume 7
Pages e7983
DOI https://doi.org/10.7717/peerj.7983
Public URL https://rvc-repository.worktribe.com/output/1379685

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