Copy number variations in autistic children Article Swipe
Safiah Alhazmi
,
Maram Alharthi
,
Maryam Alzahrani
,
Aisha Alrofaidi
,
Fatemah Basingab
,
Asma Almuhammadi
,
Heba Alkhatabi
,
Abrar Ashi
,
Adeel Chaudhary
,
Aisha Elaimi
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3892/br.2024.1795
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3892/br.2024.1795
Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood. Cytogenetically visible chromosomal abnormalities, including copy number variations (CNVs), have been shown to contribute to the pathogenesis of ASD. More than 1% of ASD conditions can be explained based on a known genetic locus, whereas CNVs account for 5-10% of cases. However, there are no studies on the Saudi Arabian population for the detection of CNVs linked to ASD, to the best of our knowledge. Therefore, the aim of the present study was to explore the prevalence of CNVs in autistic Saudi Arabian children. Genomic DNA was extracted from the peripheral blood of 14 autistic children along with four healthy control children and then array-based comparative genomic hybridization (aCGH) was used to detect CNVs. Bioinformatics analysis of the aCGH results showed the presence of recurrent and non-recurrent deletion/duplication CNVs in several regions of the genome of autistic children. The most frequent CNVs were 1q21.2, 3p26.3, 4q13.2, 6p25.3, 6q24.2, 7p21.1, 7q34, 7q11.1, 8p23.2, 13q32.3, 14q11.1-q11.2 and 15q11.1-q11.2. In the present study, CNVs in autistic Saudi Arabian children were identified to improve the understanding of the etiology of autism and facilitate its diagnosis. Additionally, the present study identified certain possible pathogenic genes in the CNV region associated with several developmental and neurogenetic diseases.
Related Topics
Concepts
Copy-number variation
Autism
Comparative genomic hybridization
Gene duplication
Genetics
Locus (genetics)
Etiology
Biology
Autism spectrum disorder
Human genetics
Population
Genome
Gene
Medicine
Psychiatry
Environmental health
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3892/br.2024.1795
- https://www.spandidos-publications.com/10.3892/br.2024.1795/download
- OA Status
- diamond
- Cited By
- 2
- References
- 92
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399299740
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4399299740Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3892/br.2024.1795Digital Object Identifier
- Title
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Copy number variations in autistic childrenWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-06-03Full publication date if available
- Authors
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Safiah Alhazmi, Maram Alharthi, Maryam Alzahrani, Aisha Alrofaidi, Fatemah Basingab, Asma Almuhammadi, Heba Alkhatabi, Abrar Ashi, Adeel Chaudhary, Aisha ElaimiList of authors in order
- Landing page
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https://doi.org/10.3892/br.2024.1795Publisher landing page
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https://www.spandidos-publications.com/10.3892/br.2024.1795/downloadDirect link to full text PDF
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
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https://www.spandidos-publications.com/10.3892/br.2024.1795/downloadDirect OA link when available
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Copy-number variation, Autism, Comparative genomic hybridization, Gene duplication, Genetics, Locus (genetics), Etiology, Biology, Autism spectrum disorder, Human genetics, Population, Genome, Gene, Medicine, Psychiatry, Environmental healthTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
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2025: 1, 2024: 1Per-year citation counts (last 5 years)
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92Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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