Mutations in FUS cause FALS and SALS in French and French Canadian populations
Mutations in FUS cause FALS and SALS in French and French Canadian populations
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DOI：
10.1212/wnl.0b013e3181bbfeef
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发表时间：
2009-10-13
期刊：
影响因子：
9.9
通讯作者：
Rouleau, G. A.
中科院分区：
文献类型：
--
作者：
Belzil, V. V.;Valdmanis, P. N.;Rouleau, G. A.
背景资料：在TARDBP和最近的鉴定FUS基因突变的肌萎缩性侧索硬化症（ALS）的原因是识别突变的领域提供了新的见解有关的机制，在这种严重的神经退行性疾病。方法：为了延长这些最近的遗传报告，我们筛选了整个基因在一个队列的200例ALS患者。结果：在4例散发性ALS患者中共检测到3种不同的突变，包括1例散发性ALS患者第3外显子的3-bp缺失，1例家族性ALS患者和2例散发性ALS患者第15外显子的2个错义突变。我们的研究确定了FUS基因突变的散发患者。不同基因和突变的积累和描述有助于更全面地了解肌萎缩侧索硬化症背后的遗传事件。神经病学（R）2009; 73：1176-1179
Background: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease.Methods: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported.Results: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS.Conclusions: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis. Neurology (R) 2009; 73: 1176-1179