Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans

S. Ortega-Cubero; O. Lorenzo-Betancor; E. Lorenzo; E. Alonso; F. Coria; M. A. Pastor; R. Fernández-Santiago; M. J. Martí; M. Ezquerra; F. Valldeoriola; Y. Compta; E. Tolosa; J. A. Agundez; F. J. Jiménez-Jiménez; A. Gironell; J. Clarimon; P. de Castro; E. García-Martín; H. Alonso-Navarro; P. Pastor

doi:10.1016/j.neurobiolaging.2013.04.024

Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans

S. Ortega-Cubero, O. Lorenzo-Betancor, E. Lorenzo, E. Alonso, F. Coria, M. A. Pastor, R. Fernández-Santiago, M. J. Martí, M. Ezquerra, F. Valldeoriola, Y. Compta, E. Tolosa, J. A. Agundez, F. J. Jiménez-Jiménez, A. Gironell, J. Clarimon, P. de Castro, E. García-Martín, H. Alonso-Navarro, P. Pastor

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Abstract

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. © 2013 Elsevier Inc.

Original language	English
Pages (from-to)	2441.e9-2441.e11
Journal	Neurobiology of Aging
Volume	34
Issue number	10
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.04.024
Publication status	Published - 1 Jan 2013

Keywords

Essential tremor
FUS
Sequencing

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Ortega-Cubero, S., Lorenzo-Betancor, O., Lorenzo, E., Alonso, E., Coria, F., Pastor, M. A., Fernández-Santiago, R., Martí, M. J., Ezquerra, M., Valldeoriola, F., Compta, Y., Tolosa, E., Agundez, J. A., Jiménez-Jiménez, F. J., Gironell, A., Clarimon, J., de Castro, P., García-Martín, E., Alonso-Navarro, H., & Pastor, P. (2013). Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans. Neurobiology of Aging, 34(10), 2441.e9-2441.e11. https://doi.org/10.1016/j.neurobiolaging.2013.04.024

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title = "Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans",

abstract = "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. {\textcopyright} 2013 Elsevier Inc.",

keywords = "Essential tremor, FUS, Sequencing",

author = "S. Ortega-Cubero and O. Lorenzo-Betancor and E. Lorenzo and E. Alonso and F. Coria and Pastor, {M. A.} and R. Fern{\'a}ndez-Santiago and Mart{\'i}, {M. J.} and M. Ezquerra and F. Valldeoriola and Y. Compta and E. Tolosa and Agundez, {J. A.} and Jim{\'e}nez-Jim{\'e}nez, {F. J.} and A. Gironell and J. Clarimon and {de Castro}, P. and E. Garc{\'i}a-Mart{\'i}n and H. Alonso-Navarro and P. Pastor",

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doi = "10.1016/j.neurobiolaging.2013.04.024",

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Ortega-Cubero, S, Lorenzo-Betancor, O, Lorenzo, E, Alonso, E, Coria, F, Pastor, MA, Fernández-Santiago, R, Martí, MJ, Ezquerra, M, Valldeoriola, F, Compta, Y, Tolosa, E, Agundez, JA, Jiménez-Jiménez, FJ, Gironell, A, Clarimon, J, de Castro, P, García-Martín, E, Alonso-Navarro, H & Pastor, P 2013, 'Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans', Neurobiology of Aging, vol. 34, no. 10, pp. 2441.e9-2441.e11. https://doi.org/10.1016/j.neurobiolaging.2013.04.024

TY - JOUR

T1 - Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans

AU - Ortega-Cubero, S.

AU - Lorenzo-Betancor, O.

AU - Lorenzo, E.

AU - Alonso, E.

AU - Coria, F.

AU - Pastor, M. A.

AU - Fernández-Santiago, R.

AU - Martí, M. J.

AU - Ezquerra, M.

AU - Valldeoriola, F.

AU - Compta, Y.

AU - Tolosa, E.

AU - Agundez, J. A.

AU - Jiménez-Jiménez, F. J.

AU - Gironell, A.

AU - Clarimon, J.

AU - de Castro, P.

AU - García-Martín, E.

AU - Alonso-Navarro, H.

AU - Pastor, P.

PY - 2013/1/1

Y1 - 2013/1/1

N2 - 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. © 2013 Elsevier Inc.

AB - 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. © 2013 Elsevier Inc.

KW - Essential tremor

KW - FUS

KW - Sequencing

U2 - 10.1016/j.neurobiolaging.2013.04.024

DO - 10.1016/j.neurobiolaging.2013.04.024

M3 - Article

SN - 0197-4580

VL - 34

SP - 2441.e9-2441.e11

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 10

ER -

Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans

Abstract

Keywords

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