Investigating the role of FUS exonic variants in essential tremor.
Investigating the role of FUS exonic variants in essential tremor.
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DOI：
10.1016/j.parkreldis.2013.03.005
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发表时间：
2013-08
影响因子：
4.1
通讯作者：
Ross OA
中科院分区：
文献类型：
--
作者：
Labbé C;Soto-Ortolaza AI;Rayaprolu S;Harriott AM;Strongosky AJ;Uitti RJ;Van Gerpen JA;Wszolek ZK;Ross OA
特发性震颤是最常见的运动障碍。家族聚集表明疾病有很强的遗传成分。联系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。最近一项使用全外显子组测序的研究发现了FUS基因（p.Q290X）中一种罕见的无义变异，该变异与一个法裔加拿大大家族的特发性震颤分离。此外，在特发性震颤患者中发现了另外两种罕见的FUS变异（p.R216C和p.P431L），但无法将其与疾病共分离分析。在本研究中，我们对152例原发性震颤家族先显子的全部15个FUS外显子进行了测序，并对112例散发性原发性震颤患者和716名对照受试者的3个FUS变异进行了基因分型。在我们的测序中只检测到已知的不太可能致病的同义snp，而没有检测到任何最近发现的突变或新突变。我们的结论是，与原发性震颤风险相关的FUS突变可能是罕见的。
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.
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影响因子：
56.9
作者：
Kwiatkowski, T. J., Jr.;Bosco, D. A.;Brown, R. H., Jr.
通讯作者：
Brown, R. H., Jr.
影响因子：
2.8
作者：
Bherer, Claude;Labuda, Damian;Vezina, Helene
通讯作者：
Vezina, Helene
影响因子：
158.5
作者：
Louis, ED
通讯作者：
Louis, ED
影响因子：
30.8
作者：
Stefansson H;Steinberg S;Petursson H;Gustafsson O;Gudjonsdottir IH;Jonsdottir GA;Palsson ST;Jonsson T;Saemundsdottir J;Bjornsdottir G;Böttcher Y;Thorlacius T;Haubenberger D;Zimprich A;Auff E;Hotzy C;Testa CM;Miyatake LA;Rosen AR;Kristleifsson K;Rye D;Asmus F;Schöls L;Dichgans M;Jakobsson F;Benedikz J;Thorsteinsdottir U;Gulcher J;Kong A;Stefansson K
通讯作者：
Stefansson K
影响因子：
8.6
作者：
Deuschl, G;Bain, P;Brin, M
通讯作者：
Brin, M