外显子
多重连接依赖探针扩增
基因复制
遗传学
疾病
生物
外显子组测序
医学
多重聚合酶链反应
基因
表型
病理
聚合酶链反应
作者
Qi Liu,Bin Jiang,Min Zhang,Huijuan Wan,Zi-Wen Yu,Jing Wang,Chu-Chuan Xu,Si-Ning Lin,Kun-Mu Zheng,Naian Xiao,Min Bi,Jian-Peng Li
标识
DOI:10.1016/j.neulet.2022.136880
摘要
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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