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• W3082104023 abstract "Recently, LRP10 has been identified as a causative gene for Parkinson’s disease (PD). However, subsequent studies showed inconsistent conclusions. To explore its relevance to PD, we systematically analyzed LRP10 rare mutations in a large Han Chinese familial PD cohort of 385 unrelated probands using segregation analysis, transcriptional effect analysis, and burden test. As a result, 3 missense variants and 1 splicing region variant in LRP10 were identified in 4 probands. Segregation analysis revealed 1 variant p.Arg66His cosegregating with PD status, 1 variant p.Ala613Ser not, and the other variant p.Gln581His unknown. The variant c.406+5G>T located at the splicing region has no effect on splicing, suggesting it is likely a rare neutral intronic variant. The burden test suggested no significant over-representation of rare variants in PD probands. Therefore, more robust independent studies are warranted to explore the pathogenicity of LRP10 mutations." @default.
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• W3082104023 date "2021-03-01" @default.
• W3082104023 modified "2023-09-24" @default.
• W3082104023 title "Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort" @default.
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• W3082104023 doi "https://doi.org/10.1016/j.neurobiolaging.2020.08.015" @default.
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