scholarly journals Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Kuan Fan ◽  
Pengzhi Hu ◽  
Chengyuan Song ◽  
Xiong Deng ◽  
Jie Wen ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Genetic Factors ◽  
Genetic Diagnosis ◽  
Han Chinese ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Variants ◽  
Early Onset Parkinson’S Disease

Genetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.

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.

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

2003 ◽  
Vol 54 (2) ◽  
pp. 271-274 ◽  
Author(s):  
Stephen Hague ◽  
Ekaterina Rogaeva ◽  
Dena Hernandez ◽  
Cindy Gulick ◽  
Amanda Singleton ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Compound Heterozygous ◽  
Early Onset Parkinson’S Disease

Novel compound heterozygous of PARKIN causes early-onset Parkinson’s disease

2021 ◽  
Vol 744 ◽  
pp. 135597
Author(s):  
Li-Hua Yu ◽  
Guo-Ping Peng ◽  
Yuan Yuan ◽  
Xiao-Yan Liu ◽  
Fang Ji ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Compound Heterozygous ◽  
Early Onset Parkinson’S Disease

scholarly journals Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease

2020 ◽  
Vol 80 ◽  
pp. 142-147
Author(s):  
Oswaldo Lorenzo-Betancor ◽  
Yi-Han Lin ◽  
Ali Samii ◽  
Suman Jayadev ◽  
Hojoong M. Kim ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Compound Heterozygous ◽  
Early Onset Parkinson’S Disease
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