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Mutation Analysis of LRP10 in a Large Chinese Familial Parkinson Disease Cohort
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-08-01 , DOI: 10.1016/j.neurobiolaging.2020.08.015 ChunYu Li 1 , YongPing Chen 1 , RuWei Ou 1 , XiaoJing Gu 1 , QianQian Wei 1 , Bei Cao 1 , LingYu Zhang 1 , YanBing Hou 1 , KunCheng Liu 1 , XuePing Chen 1 , Wei Song 1 , Bi Zhao 1 , Ying Wu 1 , HuiFang Shang 1
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-08-01 , DOI: 10.1016/j.neurobiolaging.2020.08.015 ChunYu Li 1 , YongPing Chen 1 , RuWei Ou 1 , XiaoJing Gu 1 , QianQian Wei 1 , Bei Cao 1 , LingYu Zhang 1 , YanBing Hou 1 , KunCheng Liu 1 , XuePing Chen 1 , Wei Song 1 , Bi Zhao 1 , Ying Wu 1 , HuiFang Shang 1
Affiliation
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.
更新日期：2020-08-01
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