Canine Model of Cohen Syndrome: Trapped Neutrophil Syndrome
Author Information
Author(s): Jeremy R Shearman, Alan N Wilton
Primary Institution: University of New South Wales
Hypothesis
Is the mutation in VPS13B responsible for Trapped Neutrophil Syndrome in Border collies?
Conclusion
Dogs can be used as a model organism to explore the function of the alternately spliced transcript of VPS13B in the brain.
Supporting Evidence
- The causative mutation in Border collies is a 4 bp deletion in VPS13B.
- All affected dogs were homozygous for the deletion.
- Linkage analysis showed significant evidence of linkage with a maximum LOD score of 8.86.
Takeaway
This study found that a specific gene mutation in Border collies causes a disease similar to Cohen syndrome in humans, making dogs a good model for studying this condition.
Methodology
The study used a candidate gene approach and linkage analysis to identify the causative mutation in VPS13B.
Potential Biases
The sample set may have ascertainment bias as it included dogs with familial links to known carriers.
Limitations
The study primarily focused on Border collies, which may limit the generalizability of the findings to other breeds.
Participant Demographics
The study involved Border collies, specifically those affected by Trapped Neutrophil Syndrome.
Statistical Information
P-Value
0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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