Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.

ABSTRACT:

Background

The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs). In this study, we present data on the frequency and spectrum of CNVs on the X chromosome in a cohort of patients with neurodevelopmental disorders (NDDs).

Methods

Chromosomal microarray analysis was performed for 1175 patients with NDDs. CNVs were confirmed by real-time quantitative PCR. X chromosome inactivation was analysed by methyl-sensitive PCR. To determine the pathogenic significance of the CNVs, several criteria, including the origin (inherited or de novo), variant type (microdeletion or microduplication), and X chromosome inactivation pattern in asympt

SUBMITTER: Tolmacheva EN 

PROVIDER: S-EPMC11846235 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature