In other species: domestic cat , sheep , Rhesus monkey

Possibly relevant human trait(s) and/or gene(s) (MIM number): 245200

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: Also known as globoid cell leukodystrophy. A lysosomal storage disease in which there is a buildup (storage) of myelin, due to the lack of the enzyme galactosylceramidase (galactocerebrosidase), whose task is to break down myelin into its constituent molecules. Characterised by weakness progressing to paralysis.

Species-specific name: globoid cell leukodystrophy

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Victoria et al. (1996) identified the cause of this disorder, in both West Highland White terriers and Cairn terriers, as a base substitution (A to C transversion) at position 473 of the cDNA for galactocerebriosidase (GALC), resulting in an amino acid substitution (tyrosine to serine) at position 158 in the peptide. They have developed a PCR genotyping test which is being used within both breeds, to identify carriers.

In an Irish Setter family, McGraw and Carmichael (2006) identified a 78 bp insertion in the same gene as the causative mutation.

Breeds: Cairn terrier, West Highland White terrier.

Associated gene: