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A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder

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Abstract

Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this disorder is highly heterogeneous. This disorder is associated with both inheritable and de novo mutations in several genes. In addition to genetic loci that are identified through early karyotype analyses, recent advent of high throughput sequencing methods has facilitated identification of several genetic loci that confer risk of ASD. The current review provides an overview of different types of identified mutations including missense and nonsense mutations and copy number variations in various genes in individuals affected with ASD.

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Data Availability

The analyzed data sets generated during the study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors would like to thank the clinical Research Development Unit (CRDU) of Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran, for their support, cooperation and assistance throughout the period of study.

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Authors and Affiliations

  1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Soudeh Ghafouri-Fard

  2. Phytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Ashkan Pourtavakoli & Seyed Abdulmajid Ayatollahi

  3. Department of Clinical Analysis, College of Pharmacy, Hawler Medical University, Erbil, Kurdistan Region, Iraq

    Bashdar Mahmud Hussen

  4. Institute of Human Genetics, Jena University Hospital, Jena, Germany

    Mohammad Taheri

  5. Urology and Nephrology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mohammad Taheri

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Contributions

SGF wrote the draft and revised it. MT designed and supervised the study. AP, BMH, and SAA collected the data and designed the figures and tables. All the authors read the submitted version and approved it.

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Correspondence to Mohammad Taheri or Seyed Abdulmajid Ayatollahi.

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Ghafouri-Fard, S., Pourtavakoli, A., Hussen, B.M. et al. A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder. Mol Neurobiol 60, 5256–5272 (2023). https://doi.org/10.1007/s12035-023-03405-9

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  • DOI: https://doi.org/10.1007/s12035-023-03405-9

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