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Case Reports
. 2011 Mar;32(3):553.e23-6.
doi: 10.1016/j.neurobiolaging.2010.05.016. Epub 2010 Jul 3.

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

Adriano Chiò  1 , Andrea Calvo, Cristina Moglia, Irene Ossola, Maura Brunetti, Luca Sbaiz, Shiao-lin Lai, Yevgeniya Abramzon, Bryan J Traynor, Gabriella Restagno
Affiliations
Case Reports

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

Adriano Chiò et al. Neurobiol Aging. 2011 Mar.

Abstract

Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561C>T, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.

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Figures

Figure 1
Figure 1
Family pedigree with chromatograms of part of exon 15 of FUS gene. Square indicates male; circle, female; slash, deceased; solid symbol, affected; and arrow, index patient.
See this image and copyright information in PMC

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