Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.

Joseph FennMike BoursnellRebekkah J HittiChristopher A JenkinsRebecca L TerrySimon L PriestnallPatrick J KennyCathryn S MellershOliver P Forman

Published in: BMC genetics (2016)

This is the first report of CCD in Hungarian Vizsla dogs and identifies a highly associated splice donor site mutation in SNX14, with an autosomal recessive mode of inheritance suspected.

Keyphrases

genome wide
copy number
mitochondrial dna
dna methylation
single cell
pulmonary embolism
intellectual disability
gene expression
autism spectrum disorder