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Eur J Neurol. 2014 Feb;21(2):361-3. doi: 10.1111/ene.12231. Epub 2013 Jul 3.

Identification of FUS p.R377W in essential tremor.

Author information

1
Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.

Abstract

BACKGROUND AND PURPOSE:

Exome sequencing analysis has recently identified a nonsense mutation in fused in sarcoma (FUS) segregating with essential tremor (ET) within a large French-Canadian family. Further characterization of FUS resulted in the identification of additional mutations in ET patients; however, their pathogenicity still remains to be confirmed. The role of FUS in an independent cohort of ET patients from Canada was evaluated.

METHODS:

The entire coding sequence of FUS in 217 patients diagnosed with ET was analyzed and two missense variants in 219 healthy controls were genotyped by Sanger sequencing.

RESULTS:

Sequencing of FUS identified a previously reported non-pathogenic mutation p.G174_G175del in one ET patient and two healthy controls, and a novel p.R377W in one patient with family history of disease. This mutation is highly conserved and strongly predicted to be damaging by in silico analysis.

CONCLUSION:

This study has identified a novel FUS p.R377W substitution in ET patients. Additional genotyping studies in a large number of ET patients and controls are necessary to conclusively define its pathogenicity.

KEYWORDS:

FUS; amyotrophic lateral sclerosis; essential tremor; mutation

PMID:
23834483
PMCID:
PMC5092174
DOI:
10.1111/ene.12231
[Indexed for MEDLINE]
Free PMC Article
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