title: Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor.
abstract: We conducted genetic analysis of the fused in sarcoma gene (FUS) in Chinese Han patients with essential tremor (ET) in a case-control association study. One hundred eighty unrelated patients with ET were screened for mutations in the coding region and exon-intron boundaries of FUS. Reverse transcriptase polymerase chain reaction analysis was performed to evaluate if the c.1176G>A variant results in change of splice site. Two hundred seventy-three normal control subjects were also analyzed when DNA variants were identified in ET cohort. A novel missense mutation, c.1176G>A (p.M392I), in FUS was identified in a 62-year-old patient. Four known variants (c.52C>A, p.P18T; c.147C>A, p.G49G; c.291T>C, p.Y97Y; c.684C>T, p.G228G) were observed in the case-control study without statistically significant differences in genotype and allele distributions. Mutation(s) in FUS might be associated with a small subset of ET cases in the Chinese population.
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zheng
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Hui
authors.initials: H
authors.lastname: Liang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Kai
authors.initials: K
authors.lastname: Gao
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D044466:Asian People; D016022:Case-Control Studies; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D020329:Essential Tremor / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D034702:RNA-Binding Protein FUS; D004247:DNA