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

Citation data:

BMC genomics, ISSN: 1471-2164, Vol: 18, Issue: 1, Page: 662

Publication Year:
Usage 117
Abstract Views 89
Full Text Views 27
Link-outs 1
Captures 13
Readers 7
Exports-Saves 6
Social Media 53
Shares, Likes & Comments 50
Tweets 3
Citations 1
Citation Indexes 1
Becker, Doreen; Minor, Katie M; Letko, Anna; Ekenstedt, Kari J; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G Diane; Mickelson, James R; Drögemüller, Cord
Springer Nature
Biochemistry, Genetics and Molecular Biology
Most Recent Tweet View All Tweets
article description
Many inherited polyneuropathies (PN) observed in dogs have clinical similarities to the genetically heterogeneous group of Charcot-Marie-Tooth (CMT) peripheral neuropathies in humans. The canine disorders collectively show a variable expression of progressive clinical signs and ages of onset, and different breed prevalences. Previously in the Leonberger breed, a variant highly associated with a juvenile-onset PN was identified in the canine orthologue of a CMT-associated gene. As this deletion in ARHGEF10 (termed LPN1) does not explain all cases, PN in this breed may encompass variants in several genes with similar clinical and histopathological features.