Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese

2020 ◽  
Vol 90 ◽  
pp. 150.e5-150.e11 ◽  
Author(s):  
Nannan Li ◽  
Ling Wang ◽  
Jinhong Zhang ◽  
Eng-King Tan ◽  
Junying Li ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Ethnic Chinese ◽  
Whole Exome ◽  
Early Onset Parkinson’S Disease

scholarly journals Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Tianbai Li ◽  
Daqing Kou ◽  
Yanhua Cui ◽  
Weidong Le
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Therapy Strategy ◽  
Whole Exome ◽  
Early Onset Parkinson’S Disease

Abstract Early-onset Parkinson’s disease (EOPD) is usually caused by genetic variants and patients with EOPD develop symptoms before the age of 50, accounting for 5% Parkinson’s disease (PD). Here we present a Chinese Han pedigree with clinical features of EOPD. To determine the diagnosis and pathogenic mutations of this pedigree, whole exome sequencing, Sanger sequencing and real-time quantitative PCR were performed to detect all the four family members. Our results showed that a new form of compound heterozygous mutation in the PRKN gene, consisting of heterozygous point mutation c.850G > C (p.G284R) along with exon 4 deletion, is the causative genetic factor for EOPD in this pedigree. These discoveries may have implications for genetic counseling, clinical management and developing PRKN target gene therapy strategy.

Utility and implications of exome sequencing in early‐onset Parkinson's disease

2018 ◽  
Vol 34 (1) ◽  
pp. 133-137 ◽  
Author(s):  
Joanne Trinh ◽  
Katja Lohmann ◽  
Hauke Baumann ◽  
Alexander Balck ◽  
Max Borsche ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Early Onset ◽  
Early Onset Parkinson’S Disease

Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson’s disease by whole-exome sequencing

2020 ◽  
Vol 733 ◽  
pp. 135075 ◽  
Author(s):  
Hui Chen ◽  
Yu-Hua Jin ◽  
Yan-Yan Xue ◽  
Yu-Lan Chen ◽  
Yi-Jun Chen ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patients ◽  
Whole Exome

Analysis of PArkin Co-Regulated Gene in a Taiwanese–Ethnic Chinese cohort with early-onset Parkinson's disease

2009 ◽  
Vol 15 (6) ◽  
pp. 417-421 ◽  
Author(s):  
Juliet M. Taylor ◽  
Ruey-Meei Wu ◽  
Matthew J. Farrer ◽  
Martin B. Delatycki ◽  
Paul J. Lockhart
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Ethnic Chinese ◽  
Chinese Cohort ◽  
Early Onset Parkinson’S Disease

scholarly journals Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Eman Al Yemni ◽  
Dorota Monies ◽  
Thamer Alkhairallah ◽  
Saeed Bohlega ◽  
Mohamed Abouelhoda ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Copy Number ◽  
Integrated Analysis ◽  
Whole Exome

scholarly journals Enrichment of Rare Variants in E3 Ubiquitin Ligase Genes in Early Onset Parkinson’s Disease

2021 ◽  
Author(s):  
Xiaojing Gu ◽  
Yanbing Hou ◽  
Yongping Chen ◽  
Ruwei Ou ◽  
Bei Cao ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Ubiquitin Ligase ◽  
Early Onset ◽  
Rare Variants ◽  
E3 Ubiquitin Ligase ◽  
Whole Exome ◽  
Significant Enrichment ◽  
Aggregate Burden ◽  
Early Onset Parkinson’S Disease

Abstract BackgroundDysfunction of the ubiquitination proteasome system (UPS) is important in the pathogenesis of Parkinson’s disease (PD). Patients with early onset PD (EOPD) are more susceptible to genetic factors. We systematically examined the overlaps between E3 ubiquitin ligase genes and EOPD. MethodsA total of 695 EOPD patients were sequenced with whole exome sequencing. Aggregate burden for rare variants (Minor allele frequency <0.001 and <0.0001) in a total of 44 E3 ubiquitin ligase genes causing disorders involved in the nervous system were analyzed.ResultsThere was significant enrichment of the rare and rare damaging variants in the E3 ubiquitin ligase genes in EOPD patients. Detailly, at the gene-based level, the strongest associations were found in HERC1, IRF2BPL, KMT2D, RAPSN, RLIM, RNF168 and RNF216. ConclusionOur findings highlight the importance of the UPS mechanism in the pathogenesis of PD from the genetic perspective. Moreover, our study also expanded the susceptible gene spectrum for PD.

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