Screening for NOTCH2NLC gene dynamic mutation in patients with essential tremor
10.16352/j.issn.1001-6325.2023.12.1778
- VernacularTitle:特发性震颤患者NOTCH2NLC基因动态突变筛查
- Author:
Xinyi ZHANG
1
;
Ximeng ZHAO
;
Yingmai YANG
;
Xinhua WAN
;
Liying CUI
;
Xue ZHANG
;
Qing LIU
Author Information
1. 中国医学科学院基础医学研究所 北京协和医学院基础学院 麦库西克-张孝骞协和遗传医学中心疑难重症及罕见病国家重点实验室,北京 100005
- Keywords:
essential tremor;
NOTCH2NLC;
genetic screening
- From:
Basic & Clinical Medicine
2023;43(12):1778-1783
- CountryChina
- Language:Chinese
-
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.
