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Published on: December 13, 2017
Identification of FUS p.R377W in essential tremor
A Rajput1, A H Rajput, M L Rajput
1Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.
European Journal of Neurology
|July 10, 2013
Summary
Researchers investigated the fused in sarcoma (FUS) gene in essential tremor (ET) patients. A novel FUS mutation, p.R377W, was identified in one ET patient, suggesting a potential role in the disease.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Exome sequencing identified a fused in sarcoma (FUS) gene mutation linked to essential tremor (ET) in a French-Canadian family.
- Further FUS mutations were found in ET patients, but their role in disease pathogenicity requires confirmation.
Purpose of the Study:
- To evaluate the role of the FUS gene in an independent cohort of essential tremor (ET) patients in Canada.
- To investigate potential genetic links between FUS mutations and essential tremor (ET).
Main Methods:
- Analyzed the complete coding sequence of the FUS gene in 217 essential tremor (ET) patients.
- Genotyped two missense variants in 219 healthy controls using Sanger sequencing.
Main Results:
- Identified a known non-pathogenic FUS mutation (p.G174_G175del) in one ET patient and two controls.
- Discovered a novel FUS mutation (p.R377W) in one ET patient with a family history of the disease.
- In silico analysis indicated the novel p.R377W mutation is highly conserved and predicted to be damaging.
Conclusions:
- Identified a novel FUS p.R377W substitution in essential tremor (ET) patients.
- Further large-scale genotyping studies in ET patients and controls are needed to confirm the pathogenicity of this novel FUS mutation.
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