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Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

Autores: Ortega Cubero, Sara; Lorenzo-Betancor, O.; Lorenzo Ramos, María Elena; Alonso Iglesias, Elena; Coria, F.; Pastor, María A.; Fernandez-Santiago, R.; Marti, M. J.; Ezquerra, M.; Valldeoriola, F.; Compta, Y.; Tolosa, E.; Agundez, J. A.; Jimenez-Jimenez, F. J.; Gironell, A.; Clarimon, J.; de Castro Lorenzo, Purificación; Garcia-Martin, E.; Alonso-Navarro, H.; Pastor Muñoz, Pau
Título de la revista: NEUROBIOLOGY OF AGING
ISSN: 0197-4580
Volumen: 34
Número: 10
Páginas: 2441.e9 - 2441.e11
Fecha de publicación: 2013
FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine whether mutations in FUS are also common in other populations, we sequenced FUS gene in 178 unrelated Spanish subjects with ET. We detected only an intronic single-pair nucleotide deletion (c.1293-37delC), which was predicted to affect mRNA splicing. However, leukocyte mRNA analysis showed no changes in FUS expression. In conclusion, coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population.