A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

NEUROBIOLOGY OF AGING

卷:35

Article

Calvo, Andrea¹  Moglia, Cristina¹  Canosa, Antonio¹  Brunetti, Maura²  Barberis, Marco²  Traynor, Bryan J.³  Carrara, Giovanna⁴  Valentini, Consuelo⁴  Restagno, Gabriella²  Chio, Adriano^1,5 

[1] Univ Turin, Rita Levi Montalcini Dept Neurosci, ALS Ctr, I-10126 Turin, Italy

[2] Azienda Osped Citta Salute & Sci, Mol Genet Lab, Turin, Italy

[3] NIA, Neuromuscular Dis Res Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[4] Dept Neuroradiol, Azienda Osped Citta Salute & Sci, Dept Neuroradiol, Turin, Italy

[5] Neurosci Inst Torino, Turin, Italy

关键词: Amyotrophic lateral sclerosis;    FUS;    de novo mutation;   

DOI  :  10.1016/j.neurobiolaging.2013.12.028

来源: Elsevier

【 摘 要 】

Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS. This mutation causes a phenotype characterized by a young age at onset, a rapid course (<24 months), and a bulbar onset with early respiratory involvement with a predominant lower motor neuron disease. De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes. (C) 2014 Elsevier Inc. All rights reserved.

【 授权许可】

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