The impact of rare variants in FUS in essential tremor. Hopfner, Stevanin et al, Mov Dis 2015

The impact of rare variants in FUS in essential tremor

Hopfner F, Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G,Brice A, Kuhlenbäumer G.

OBJECTIVE:

We analyzed the coding region of the Fused in Sarcoma (FUS) gene in familial essential tremor (ET) and reviewed previous studies assessing FUS variants in ET.

BACKGROUND:

ET is often a familial disorder with an autosomal dominant inheritance pattern. A potentially causative variant in FUS has been identified in one ET family. Subsequent studies described further putatively causal variants.

METHODS:

We performed DNA sequencing of FUS in 85 unrelated, familial German and French definite ET patients.

RESULTS:

We did not find novel variants affecting the protein sequence. Seven previously published studies and data from the exome variant server (EVS) showed that rare exonic variants in FUS are not more frequent in ET than in the general population.

CONCLUSIONS:

Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published FUS mutation segregating in a large ET family.

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