A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.

Doreen BeckerKatie M MinorAnna LetkoKari J EkenstedtVidhya JagannathanTosso LeebG Diane SheltonJames R MickelsonCord Drögemüller

Published in: BMC genomics (2017)

This GJA9 variant represents a highly probable candidate variant for another form of PN in Leonberger dogs, which we have designated LPN2, and a new candidate gene for CMT disease. To date, approximately every third PN-diagnosed Leonberger dog can be explained by the ARHGEF10 or GJA9 variants, and we assume that additional genetic heterogeneity in this condition exists in the breed.

Keyphrases

copy number
genome wide
single cell
dna methylation
gene expression
transcription factor