Parkinsonism & related disorders · 2013
Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease.
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Gao Kai, Zheng Wen, Deng Xiong, Xiong Wei, Song Zhi, Yang Yan, Deng Hao
Аннотация
BACKGROUND AND PURPOSE: Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family. Because of the clinical overlap between ET and Parkinson's disease (PD), the role of FUS in an independent cohort of PD patients from China mainland was evaluated.
METHODS: The entire coding region of FUS in 508 Chinese Han patients with PD and the identified variants in 633 normal controls were evaluated. A variant was further screened in an additional 382 controls for the frequency in our population.
RESULTS: A novel variant c.696C > T (p.Y232Y) in 2 sporadic patients with PD and six variants (c.52C > A, p.P18T; c.52C > T, p.P18S; c.147C > A, p.G49G; c.291C > T, p.Y97Y; c.684C > T, p.G228G; c.1176G > A, p.M392I) without significant difference in genotypic and allelic distributions in our PD cohort were identified.
CONCLUSION: The FUS gene is not a genetic risk factor for PD in the population of Chinese Han ethnicity.
METHODS: The entire coding region of FUS in 508 Chinese Han patients with PD and the identified variants in 633 normal controls were evaluated. A variant was further screened in an additional 382 controls for the frequency in our population.
RESULTS: A novel variant c.696C > T (p.Y232Y) in 2 sporadic patients with PD and six variants (c.52C > A, p.P18T; c.52C > T, p.P18S; c.147C > A, p.G49G; c.291C > T, p.Y97Y; c.684C > T, p.G228G; c.1176G > A, p.M392I) without significant difference in genotypic and allelic distributions in our PD cohort were identified.
CONCLUSION: The FUS gene is not a genetic risk factor for PD in the population of Chinese Han ethnicity.