Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders.

ABSTRACT:

Objective

Gain a better understanding of sex-specific differences in individuals with global developmental delay (GDD), with a focus on phenotypes and genotypes.

Methods

Using the Deciphering Developmental Disorders (DDD) dataset, we extracted phenotypic information from 6,588 individuals with GDD and then identified statistically significant variations in phenotypes and genotypes based on sex. We compared genes with pathogenic variants between sex and then performed gene network and molecular function enrichment analysis and gene expression profiling between sex. Finally, we contrasted individuals with autism as an associated condition.

Results

We identified significantly differentially expressed phenotypes in males vs. females individuals with GDD. Autism and macroc

SUBMITTER: Cuppens T 

PROVIDER: S-EPMC10441218 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature