Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.

ABSTRACT:

Objective

The NEK1 gene has been recently implicated in amyotrophic lateral sclerosis (ALS). This study aims to assess the influence of NEK1 variants on the occurrence of ALS and investigate the spectrum and clinical features of NEK1 loss-of-function (LOF) variants in a Taiwanese ALS cohort.

Methods

We screened 325 unrelated ALS patients for coding variants in NEK1 by targeted resequencing and queried the Taiwan Biobank database for NEK1 coding variants in 1000 Taiwanese healthy individuals. The clinical features of the patients with a NEK1 LOF variant were analyzed.

Results

Six patients and two healthy individuals carried NEK1 LOF variants. The rare missense variants with minor allele frequencies <0.1% in Taiwanese population were present in 2.8% of the ALS patients

SUBMITTER: Tsai YS 

PROVIDER: S-EPMC7318098 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature