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LRP10 Mutations May Correlate with Sporadic Parkinson’s Disease in China

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机构: [a]Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, Chengdu, 610041, China [b]Department of Geriatric Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province 650032, China [c]Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan Province 450000, China
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关键词: Genetic variants LDL receptor-related protein 10 LRP10 Parkinson’s disease

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LDL receptor-related protein (LRP) 10 was recently identified as a Parkinson’s disease gene through genome-wide linkage and sequencing analysis, but its role in Parkinson’s disease in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of LRP10 mutations in a cohort of Parkinson’s disease patients from mainland China. All LRP10 exons and their flanking intron regions were screened by direct sequencing in 567 unrelated Parkinson’s disease patients and 600 unrelated controls. We detected 29 exonic or splicing variants in 79 patients with Parkinson’s disease. Five variants (c.A181C:p.I61L, c.C652T:p.Q218X, c.C833T:p.T278I, c.T1592G:p.I531S, c.T1697C:p.L566P) were predicted to be disease-causing or damaging by multiple in silico tools. Our study provides genetic evidence that LRP10 defects may correlate with sporadic Parkinson’s disease. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.

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大类 | 2 区 医学
小类 | 2 区 神经科学
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大类 | 2 区 医学
小类 | 2 区 神经科学
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Q2 NEUROSCIENCES
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第一作者机构: [a]Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, Chengdu, 610041, China
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