Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders
CNV detection via CMA proved invaluable and is considered a primary tool in ASD diagnosis. Distinguishing between inherited and de novo CNVs is crucial for accurate genetic counseling. Most genes involved in the detection of pathological or likely pathogenic CNVs are linked to neuronal functions, and these CNVs impact specific parameters in CARS and ADI-R assessments. Future efforts should prioritize a more comprehensive understanding of the genetic underpinnings of ASD, enabling the adoption of personalized treatment strategies.
Authors
- Nagwa A. Meguid (ORCID: https://orcid.org/0000-0002-7962-2501)
- Maha Hemimi
- Khalda Amr (ORCID: https://orcid.org/0000-0001-8472-5911)
- Rana Mahrous (ORCID: https://orcid.org/0000-0001-9539-437X)
- Phoebe M. Abd El-Massieh
- Amal Elsaeid (ORCID: https://orcid.org/0000-0002-1569-7002)
- Ola M. Eid (ORCID: https://orcid.org/0000-0002-3898-7117)
- Sina A. Gharib (ORCID: https://orcid.org/0000-0002-2480-4367)
- Amal M. Mohamed (ORCID: https://orcid.org/0000-0003-0258-7653)
- Shymaa H. Hussein (ORCID: https://orcid.org/0009-0001-4253-9253)
- Peter Erian
Institutions
- National Research Centre (EG)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1186/s12920-025-02250-0
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00