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.
authors.affiliation: Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Ortega-Cubero
authors.forename: O
authors.initials: O
authors.lastname: Lorenzo-Betancor
authors.forename: E
authors.initials: E
authors.lastname: Lorenzo
authors.forename: E
authors.initials: E
authors.lastname: Alonso
authors.forename: F
authors.initials: F
authors.lastname: Coria
authors.forename: M A
authors.initials: MA
authors.lastname: Pastor
authors.forename: R
authors.initials: R
authors.lastname: Fernández-Santiago
authors.forename: M J
authors.initials: MJ
authors.lastname: Martí
authors.forename: M
authors.initials: M
authors.lastname: Ezquerra
authors.forename: F
authors.initials: F
authors.lastname: Valldeoriola
authors.forename: Y
authors.initials: Y
authors.lastname: Compta
authors.forename: E
authors.initials: E
authors.lastname: Tolosa
authors.forename: J A
authors.initials: JA
authors.lastname: Agundez
authors.forename: F J
authors.initials: FJ
authors.lastname: Jiménez-Jiménez
authors.forename: A
authors.initials: A
authors.lastname: Gironell
authors.forename: J
authors.initials: J
authors.lastname: Clarimon
authors.forename: P
authors.initials: P
authors.lastname: de Castro
authors.forename: E
authors.initials: E
authors.lastname: García-Martín
authors.forename: H
authors.initials: H
authors.lastname: Alonso-Navarro
authors.forename: P
authors.initials: P
authors.lastname: Pastor
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D020329:Essential Tremor / Q000208:ethnology* / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D007962:Leukocytes; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D013030:Spain / Q000208:ethnology; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D012333:RNA, Messenger; D034702:RNA-Binding Protein FUS
keywords: Essential tremor; FUS; Sequencing