Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.

ABSTRACT:

Introduction

Essential tremor (ET) is one of the most prevalent movement disorders. The genetic etiology of ET has not been well defined although a significant proportion (≥50%) are familial cases. Linkage analysis and genome-wide association studies (GWASs) have identified several risk variants. In recent years, whole-exome sequencing of ET has revealed several specific causal variants in FUS (p.Q290X), HTRA2 (p.G399S), and TENM4 (c.4324 G>A, c.4100C>A, and c.3412G>A) genes.

Objective

To investigate the genetic contribution of these three genes to ET, the protein-coding sequences of FUS, HTRA2, and TENM4 were analyzed in a total of 238 ET patients and 272 controls from eastern China using direct Sanger sequencing.

Results

We identified two synonymous coding single nu

SUBMITTER: Yan YP 

PROVIDER: S-EPMC7366735 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature