Identification of FUS p.R377W in essential tremor. (3rd July 2013)

• Record Type: Journal Article
• Authors: Rajput, A.; Rajput, A. H.; Rajput, M. L.; Encarnacion, M.; Bernales, C. Q.; Ross, J. P.; Farrer, M. J.; Vilariño‐Güell, C.
• Is Part Of: European journal of neurology. Volume 21:Number 2(2014:Feb.)
• Page Start: 361
• Page End: 363
• Publication Date: 2013-07-03
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12231
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12231-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12231-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>Exome sequencing analysis has recently identified a nonsense mutation in fused in sarcoma (<italic>FUS</italic>) segregating with essential tremor (ET) within a large French‐Canadian family. Further characterization of <italic>FUS</italic> resulted in the identification of additional mutations in ET patients; however, their pathogenicity still remains to be confirmed. The role of <italic>FUS</italic> in an independent cohort of ET patients from Canada was evaluated.</p> </sec> <sec id="ene12231-sec-0002" sec-type="section"> <title>Methods</title> <p>The entire coding sequence of <italic>FUS</italic> in 217 patients diagnosed with ET was analyzed and two missense variants in 219 healthy controls were genotyped by Sanger sequencing.</p> </sec> <sec id="ene12231-sec-0003" sec-type="section"> <title>Results</title> <p>Sequencing of <italic>FUS</italic> 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 <italic>in silico</italic> analysis.</p> </sec> <sec id="ene12231-sec-0004" sec-type="section"> <title>Conclusion</title> <p>This study has identified a novel <italic>FUS</italic> 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.</p> </sec> </abstract>