Combined impact of <i>CHCHD10</i> p.Gly66Val and three other variants suggests oligogenic contributions to ALS.

ABSTRACT:

Introduction

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease characterized by a progressive loss of motor neurons and muscle atrophy. Genetic factors are known to play important roles in ALS and concomitant presence of rare variants in ALS patients have been increasingly reported.

Methods

In order to explore the genetic variants in ALS patients within the context of oligogenic inheritance and to elucidate the clinical heterogeneity observed in these patients, we conducted whole-genome sequencing on 34 familial ALS (FALS) probands.

Results

In one proband, we identified a CHCHD10 p.Gly66Val variant, along with three additional variants: UNC13A p.Leu1034Val, SUSD1 p.Trp704Ser, and SQSTM1 p.His359del. This patient exhi

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11959081 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature