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

ABSTRACT:

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. Pa

SUBMITTER: Hammack S 

PROVIDER: S-EPMC10473001 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature