Genomic analyses in Cavalier King Charles spaniels identify loci associated with Chiari-like malformation and Syringomyelia.

Chiari-like malformations (CM) and syringomyelia (SM) are common in Cavalier King Charles spaniels (CKCS) leading to variable manifestations of pain and scratch. The objectives of this study were to perform genome-wide association studies on CKCS using SM and clinical sign phenotypes and to use whole genome sequencing (WGS) to identify variants in regions of interest. WGS was performed on an Illumina HiSeq 4000 high-throughput sequencing system. Clinical signs were associated with a region on Canis familiaris autosome (CFA) 26 downstream of ZWINT, previously associated with skull changes in CKCS with SM.