ERS3914952
SRA accession
Dog
common name
Whole_canine_blood - Two EDTA blood samples from affected cases and 38 healthy matched controls EDTA blood samples - from frozen.
description
Canis lupus familiaris
http://purl.obolibrary.org/obo/NCBITaxon_9615
organism
Canis lupus familiaris
http://purl.obolibrary.org/obo/NCBITaxon_9615
scientific name
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.
submission description
GSB-1323
submission identifier
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant
submission title