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Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey

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Abstract

Background

Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests. This study’s first aim was to determine the clinical usefulness of CMAs in children diagnosed with ASD in a Turkish population. The second aim was to describe the CNVs and clinical phenotypes of children with ASD.

Methods and Results

This was a single-center retrospective cross‐sectional study. Data were obtained from the medical records of children with ASD followed at Gazi University Hospital, (Ankara, Turkey). The sample consisted of 47 ASD cases (mean age: 60.34 ± 25.60 months; 82.9% boys). The diagnostic yield of the CMAs was 8.5%. Four pathogenic CNVs were identified: 9p24.3p24.2 deletion, 15q11–q13 duplication, 16p11.2 deletion, and 22q13.3 deletion. Also, four variants were found at 2q36.3, 10p11.21, 15q11.2, and Xp11.22, which were classified as variants of uncertain significance (VUS).

Conclusions

The TRAP12 and PARD3 genes in CNVs classified as VUS may be worth investigating for autism. The initial identification of both clinical and biological markers can facilitate monitoring, early intervention, or prevention and advance our understanding of the neurobiology underlying ASD.

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Data availability

The data sets used in this study can be obtained from the corresponding author upon reasonable request.

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Acknowledgements

We would like to thank the children and their families who participated in this study.

Funding

The authors did not receive support from any organization for the submitted work.

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Authors and Affiliations

  1. Child and Adolescent Psychiatry Department, Gazi University Medical Faculty, Emniyet Mahallesi, Bandırma Caddesi No. 6/1, Yenimahalle, Ankara, Turkey

    Ahmet Özaslan, Elvan İşeri & Esra Güney

  2. Medical Genetics Department, Gazi University Medical Faculty, Ankara, Turkey

    Gülsüm Kayhan, Mehmet Ali Ergün & Ferda Emriye Perçin

Authors
  1. Ahmet Özaslan
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  2. Gülsüm Kayhan
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  3. Elvan İşeri
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  4. Mehmet Ali Ergün
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  6. Ferda Emriye Perçin
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Contributions

Conceptualization: Eİ, FEP, MAE, EG. Data acquisition: AÖ, Eİ, EG. Formal analysis: AÖ, GK; Writing—original draft preparation: AÖ; Writing—review and editing: AÖ, GK, Eİ, MAE, EG, FEP. Supervision: Eİ, MAE, EG, FEP.

Corresponding author

Correspondence to Ahmet Özaslan.

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The authors have no conflicts of interest to declare that are relevant to the content of this article.

Consent to participate

Informed consent was obtained from all participants included in the study.

Ethical approval

This study was approved by the Clinical Research Ethics Committee of Gazi University’s Faculty of Medicine (No. 431).

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Özaslan, A., Kayhan, G., İşeri, E. et al. Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey. Mol Biol Rep 48, 7371–7378 (2021). https://doi.org/10.1007/s11033-021-06745-8

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