基础医学与临床2023，Vol.43Issue(12)：1778-1783,6.DOI:10.16352/j.issn.1001-6325.2023.12.1778
特发性震颤患者NOTCH2NLC基因动态突变筛查
Screening for NOTCH2NLC gene dynamic mutation in patients with essential tremor
摘要
Abstract
Objective To identify the pathogenic variants in 110 patients with essential tremor(ET).Methods Clinical data and peripheral blood samples of ET patients were collected from the Department of Neurology of Peking Union Medical College Hospital and then the genomic DNA was extracted.Dynamic mutation detection of NOTCH2NLC was performed in patients with essential tremor by triplet repeat primed PCR(TP-PCR).Since ET is as-sociated with multiple mechanisms of neuro-degeneration,the next generation sequencing(NGS)panel targeting neu-rodegenerative associating genes were performed to check pathogenic variants in additional genes.Results A total of 110 ET patients and 187 matched control individuals were recruited.The age of onset in the current ET group was(36.30±17.64)years,and 74.8%patients had a family history.No abnormal trinucleotide repeat expansion in NOTCH2NLC was identified.The repeat number of(GGC)n lied within normal ranges between 10－47(average 18.6±5.4).Variants burden analysis showed association of ET with PLA2G6.Three rare variants in four patients in PLA2G6 were identified with unknown significance.Conclusions Dynamic mutations of NOTCH2NLC are uncom-mon in ET patients and that suggests need of more researches for further exploring the genetic mechanism of ET.关键词
特发性震颤/NOTCH2NLC/遗传筛查Key words
essential tremor/NOTCH2NLC/genetic screening分类
医药卫生引用本文复制引用
张忻怡,赵熙萌,杨英麦,万新华,崔丽英,张学,柳青..特发性震颤患者NOTCH2NLC基因动态突变筛查[J].基础医学与临床,2023,43(12):1778-1783,6.基金项目
国家重点研发计划项目(2022YFC2703900,2022YFC2703903) （2022YFC2703900,2022YFC2703903）
中国医学科学院医学与健康科技创新工程项目(2021-I2M-1-018,2022-I2M-JB-004) （2021-I2M-1-018,2022-I2M-JB-004）
国家自然科学基金(81788101) （81788101）
