Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

ABSTRACT:

Background

Genetic factors are major contributors to autism spectrum disorders (ASD), with copy number variations (CNVs) playing a significant role. Our objective was to identify and assess CNVs and their associated gene-level impacts in Egyptian ASD patients.

Methods

Our cohort comprised 40 non-syndromic ASD children, ranging in age from one year and nine months to 12 years. We conducted karyotyping, multiple ligation-dependent probe amplification (MLPA), Methylation-Specific MLPA (MS-MLPA), and chromosomal microarray (CMA) analyses for all patients. Additionally, quantitative real-time PCR (qPCR) analyses were performed on selected patients and their parents.

Results

We identified pathogenic or likely pathogenic CNVs in seven patients (17.5%), variants of uncertain

SUBMITTER: Mohamed AM 

PROVIDER: S-EPMC12667096 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature