Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a <i>CLN5</i> Nonsense Mutation Previously Identified in Border Collies

Abstract

The homozygous CLN5 nonsense is almost certainly causal because the same mutation previously had been reported to cause a similar form of NCL in Border Collies. Identification of the molecular genetic cause of Australian Cattle Dog NCL will allow the use of DNA tests to confirm the diagnosis of NCL in this breed.