Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism.

ABSTRACT:

Background

Evidence suggests that mitochondrial abnormalities increase the risk of two neurodevelopmental disorders: undiagnosed developmental disorder (UDD) and autism spectrum disorder (ASD). However, which nuclear-encoded mitochondrial-related genes (NEMGs) were associated with UDD-ASD is unclear.

Aim

To explore the association between de novo variants (DNVs) of NEMGs and UDD-ASD.

Design

Comprehensive analysis based on DNVs of NEMGs identified in patients (31 058 UDD probands and 10 318 ASD probands) and 4262 controls.

Methods

By curating NEMGs and cataloging publicly published DNVs in NEMGs, we compared the frequency of DNVs in cases and controls. We also applied a TADA-denovo model to highlight disease-associated NEMGs and characterized them based on gene

SUBMITTER: Luo T 

PROVIDER: S-EPMC11014680 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature