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.
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