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

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 20, 2020
• 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