A genetic analysis of Chinese patients with early-onset Parkinson' s disease
Copyright © 2022. Published by Elsevier B.V..
Genetic factors play an important role in early-onset Parkinson's disease (EOPD). The genetic spectrum of patients with EOPD varies widely among different ethnicities, with extensive investigations having been performed in Caucasian populations; however, research in Chinese populations remains limited. In this study, we performed multiplex ligation-dependent probe amplification assay and whole-exome sequencing in 15 unrelated Chinese EOPD patients with age of onset before 40 years. Among them, a patient carried compound heterozygous exon duplications in Parkin (exon 3 duplication and exon 4 duplication) (6.67 %) and two patients carried the homozygous pathogenic variant (p.D331Y) in PLA2G6 (13.33 %). Three novel variants in EIF4G1 (p.P1043S, p.R1505Q, and p.P266A) were identified and classified as uncertain significance. Additionally, a risk variant in GBA (p.L483P) was detected in one patient (6.67 %). PLA2G6 (13.33 %) was the most common causative gene among our EOPD patients. Furthermore, detailed clinical features were presented. Our results broaden the genetic spectrum and clinical phenotypic spectrum of EOPD patients.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:790 |
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| Enthalten in: |
Neuroscience letters - 790(2022) vom: 01. Nov., Seite 136880 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Liu, Qi [VerfasserIn] |
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| Links: |
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| Themen: |
Chinese population |
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| Anmerkungen: |
Date Completed 25.10.2022 Date Revised 10.11.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.neulet.2022.136880 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a Genetic factors play an important role in early-onset Parkinson's disease (EOPD). The genetic spectrum of patients with EOPD varies widely among different ethnicities, with extensive investigations having been performed in Caucasian populations; however, research in Chinese populations remains limited. In this study, we performed multiplex ligation-dependent probe amplification assay and whole-exome sequencing in 15 unrelated Chinese EOPD patients with age of onset before 40 years. Among them, a patient carried compound heterozygous exon duplications in Parkin (exon 3 duplication and exon 4 duplication) (6.67 %) and two patients carried the homozygous pathogenic variant (p.D331Y) in PLA2G6 (13.33 %). Three novel variants in EIF4G1 (p.P1043S, p.R1505Q, and p.P266A) were identified and classified as uncertain significance. Additionally, a risk variant in GBA (p.L483P) was detected in one patient (6.67 %). PLA2G6 (13.33 %) was the most common causative gene among our EOPD patients. Furthermore, detailed clinical features were presented. Our results broaden the genetic spectrum and clinical phenotypic spectrum of EOPD patients | ||
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| 700 | 1 | |a Yu, Zi-Wen |e verfasserin |4 aut | |
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| 700 | 1 | |a Xiao, Nai-An |e verfasserin |4 aut | |
| 700 | 1 | |a Bi, Min |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Jian-Peng |e verfasserin |4 aut | |
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