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.

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 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.

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

scholarly journals Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Qin Xiang ◽  
Yanna Cao ◽  
Hongbo Xu ◽  
Yi Guo ◽  
Zhijian Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Retinal Pigment ◽  
Han Chinese ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Stargardt Disease ◽  
Pathogenic Variants ◽  
Whole Exome

Abstract Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequencing and Sanger sequencing. Two novel potentially pathogenic variants in a compound heterozygous state, c.3607G>T (p.(Gly1203Trp)) and c.6722T>C (p.(Leu2241Pro)), in the ATP binding cassette subfamily A member 4 gene (ABCA4) were identified as contributing to the family’s STGD1 phenotype. These variants may impact the ABCA4 protein structure and reduce the retinal-activated ATPase activity, leading to abnormal all-trans retinal accumulation in photoreceptor outer segments and in retinal pigment epithelium cells. The present study broadens the mutational spectrum of the ABCA4 responsible for STGD1. A combination of whole exome sequencing and Sanger sequencing is likely to be a time-saving and cost-efficient approach to screen pathogenic variants in genetic disorders caused by sizable genes, as well as avoiding misdiagnosis. These results perhaps refine genetic counseling and ABCA4-targetted treatments for families affected by STGD1.

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