Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs

摘要: Background Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported. Objectives Characterize the putatively causative GALC variant for GCL in a family of dogs and determine population allele frequency. Animals Four related mixed‐breed puppies with signs of neurologic disease were evaluated. Subsequently, 33 related dogs were tested for genetic markers for parentage and the identified GALC variant. Additional GALC genotyping was performed on 278 banked samples from various breeds. Methods The 4 affected puppies had neurological exams and necropsies. DNA was isolated from blood samples. Variants in GALC were identified via Sanger sequencing. Parentage testing was performed using short tandem repeat markers. Prevalence of the GALC variant of interest was …