Exome-wide rare variant analysis in familial essential tremor.

ABSTRACT:

Introduction

Essential tremor (ET) is one of the most common movement disorders. Despite its high prevalence and heritability, its genetic etiology remains elusive with only a few susceptibility genes identified and poorly replicated. Our aim was to find novel candidate genes involved in ET predisposition through whole exome sequencing.

Methods

We studied eight multigenerational families (N = 40 individuals) with an autosomal-dominant inheritance using a comprehensive strategy combining whole exome sequencing followed by case-control association testing of prioritized variants in a separate cohort comprising 521 ET cases and 596 controls. We further performed gene-based burden analyses in an additional dataset comprising 789 ET patients and 770 healthy individuals to investi

SUBMITTER: Diez-Fairen M 

PROVIDER: S-EPMC7856267 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature