Peer-reviewed veterinary case report
Gene mutation linked to cerebellar degeneration in a Beagle puppy
By Forman Oliver P et al.·Published in BMC Genetics·2012·View original on DOAJ →
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Original publication title: Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated <it>SPTBN2</it> mutation
- Species:
- dog
Plain-English summary
A 4-week-old Beagle was unable to walk normally and showed signs of progressive balance issues, leading the owner to choose euthanasia. A thorough examination revealed that the dog had a neurodegenerative condition called neonatal cerebellar cortical degeneration, which is linked to a specific genetic mutation in the SPTBN2 gene. This mutation affects the development of Purkinje cells in the brain, causing significant neurological problems. Unfortunately, the outcome was not positive, as the condition was severe and the dog was euthanized due to its suffering.
People also search for: Beagle balance problems · neonatal cerebellar degeneration in dogs · SPTBN2 mutation in Beagles
Abstract
<p>Abstract</p> <p>Background</p> <p>Neonatal cerebellar cortical degeneration is a neurodegenerative disease described in several canine breeds including the Beagle. Affected Beagles are unable to ambulate normally from the onset of walking and the main pathological findings include Purkinje cell loss with swollen dendritic processes. Previous reports suggest an autosomal recessive mode of inheritance. The development of massively parallel sequencing techniques has presented the opportunity to investigate individual clinical cases using genome-wide sequencing approaches. We used genome-wide mRNA sequencing (mRNA-seq) of cerebellum tissue from a single Beagle with neonatal cerebellar cortical degeneration as a method of candidate gene sequencing, with the aim of identifying the causal mutation.</p> <p>Results</p> <p>A four-week old Beagle dog presented with progressive signs of cerebellar ataxia and the owner elected euthanasia. Histopathology revealed findings consistent with cerebellar cortical degeneration. Genome-wide mRNA sequencing (mRNA-seq) of RNA from cerebellum tissue was used as a method of candidate gene sequencing. After analysis of the canine orthologues of human spinocerebellar ataxia associated genes, we identified a homozygous 8 bp deletion in the β-III spectrin gene, <it>SPTBN2</it>, associated with spinocerebellar type 5 in humans. Genotype analysis of the sire, dam, ten clinically unaffected siblings, and an affected sibling from a previous litter, showed the mutation to fully segregate with the disorder. Previous studies have shown that β-III spectrin is critical for Purkinje cell development, and the absence of this protein can lead to cell damage through excitotoxicity, consistent with the observed Purkinje cell loss, degeneration of dendritic processes and associated neurological dysfunction in this Beagle.</p> <p>Conclusions</p> <p>An 8 bp deletion in the <it>SPTBN2</it> gene encoding β-III spectrin is associated with neonatal cerebellar cortical degeneration in Beagle dogs. This study shows that mRNA-seq is a feasible method of screening candidate genes for mutations associated with rare diseases when a suitable tissue resource is available.</p>
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Search related cases →Original publication on DOAJ: https://doi.org/10.1186/1471-2156-13-55