Movement disorders : official journal of the Movement Disorder Society · 2015
The impact of rare variants in FUS in essential tremor.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Hopfner Franziska, Stevanin Giovanni, Müller Stefanie H, Mundwiller Emeline, Bungeroth May, Durr Alexandra, Pendziwiat Manuela, Anheim Mathieu, Schneider Susanne A, Tittmann Lukas, Klebe Stephan, Lorenz Delia, Deuschl Günther, Brice Alexis, Kuhlenbäumer Gregor
Аннотация
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.
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.