Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.

ABSTRACT:

Objective

Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants in Chinese children with mitochondrial disorders at clinical, molecular, and functional levels.

Methods

Between February 2019 and September 2023, we analyzed pathogenic mtDNA variants in a cohort of over 600 Chinese children suspected of having mitochondrial disorders. Whole-exome sequencing (WES) and whole-mtDNA sequencing were performed on the cohort.

Results

We identified 54 pathogenic or likely pathogenic mtDNA variants in 2

SUBMITTER: Liu Z 

PROVIDER: S-EPMC11920736 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature