Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

ABSTRACT:

Introduction

Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by progressive degeneration of upper motor neurons. Homozygous or compound heterozygous variants in COQ4 have been reported to cause primary CoQ10 deficiency-7 (COQ10D7), which is a mitochondrial disease.

Aims

We aimed to screened COQ4 variants in a cohort of HSP patients.

Methods

A total of 87 genetically unidentified HSP index patients and their available family members were recruited. Whole exome sequencing (WES) was performed in all probands. Functional studies were performed to identify the pathogenicity of those uncertain significance variants.

Results

In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees an

SUBMITTER: Wei Q 

PROVIDER: S-EPMC11017416 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature