Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown. A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French Canadian family. In addition, two other rare FUS variants were identified (p.R216C and p.P431L) in Essential Tremor patients however co-segregation analysis with disease was not possible. In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida. Only known synonymous SNPs unlikely to be pathogenic were detected in our sequencing and not any of the recently identified mutations or novel ones. We conclude that the FUS mutations associated with risk of Essential Tremor are probably a rare occurrence.

译文

原发性震颤是最常见的运动障碍形式。家庭中的聚集表明疾病具有很强的遗传成分。连锁和关联研究已经确定了几个风险位点,但具体的因果变异仍然未知。最近的一项使用全外显子组测序的研究确定了FUS基因 (p.Q290X) 中的一种罕见的无意义变体,该变体与法国加拿大大家庭的原发性震颤分离。此外,在原发性震颤患者中鉴定出了另外两个罕见的FUS变体 (p.R216C和p.P431L),但是无法与疾病进行共分离分析。在本研究中,我们对152例患有原发性震颤的家族性先证者中的FUS的所有15个外显子进行了测序,并对佛罗里达州梅奥诊所招募的112例散发性原发性震颤患者和716名对照受试者进行了基因分型。在我们的测序中仅检测到已知的不太可能具有致病性的同义snp,而没有检测到任何最近发现的突变或新突变。我们得出的结论是,与原发性震颤风险相关的FUS突变可能很少见。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录