Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.

ABSTRACT:

Background

Mitochondrial disease (MD) is genetically a heterogeneous group of disorders with impairment in respiratory chain complexes or pathways associated with the mitochondrial function. Nowadays, it is still a challenge for the genetic screening of MD due to heteroplasmy of mitochondrial genome and the complex model of inheritance. This study was designed to investigate the feasibility of whole exome sequencing (WES)-based testing as an alternative option for the diagnosis of MD.

Methods

A Chinese Han cohort of 48 patients with suspect MD features was tested using nanoWES, which was a self-designed WES technique that covered the complete mtDNA genome and 21,019 nuclear genes. Fourteen patients were identified with a single genetic variant and three with single deletion

SUBMITTER: Sun C 

PROVIDER: S-EPMC9184660 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature