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

ABSTRACT: This project reports the first genetic variant in Miniature Schnauzer dogs responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. A genome-wide association study gave an indicative signal on canine chromosome 21. Although the signal was not of genome-wide significance due to the small number of cases, the SBF2 (also known as MTMR13) gene within the region of shared case homozygosity was a strong positional candidate, as 22 genetic variants in the gene have been associated with demyelinating forms of Charcot-Marie-Tooth disease in humans. Sequencing of SBF2 in cases revealed a splice donor site genetic variant, resulting in cryptic splicing and predicted early termination of the protein based on RNA sequencing results.

INSTRUMENT(S): Illumina CanineHD

ORGANISM(S): Canis Lupus Familiaris

SUBMITTER: Royal Veterinary College

PROVIDER: PRJEB34548 | EVA | 2019-09-26

REPOSITORIES: EVA

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			Action	DRS
	SBF2_variant.accessioned.vcf.gz	Vcf
	SBF2_variant.vcf.gz	Vcf
	SBF2_variant.vcf.gz.tbi	Vcf

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