Copy number variants in autism spectrum disorders

Progress in Neuro-psychopharmacology & Biological Psychiatry
Stefano VicariMarco Tartaglia

Abstract

In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.

Citations

Jul 1, 2020·International Review of Psychiatry·Suravi Patra, Sujita Kumar Kar
Sep 18, 2020·Journal of Autism and Developmental Disorders·Anita Thapar, Michael Rutter
Jan 5, 2021·Journal of Autism and Developmental Disorders·Silvia AnnunziataDaria Riva
Feb 20, 2021·Autism Research : Official Journal of the International Society for Autism Research·Aslı İnciElvan İşeri
Feb 27, 2021·Psychological Medicine·A HavdahlV Warrier
Oct 31, 2021·BMC Bioinformatics·Rosa Barcelona-CabezaRiccardo Aiese Cigliano
Dec 14, 2021·BMC Bioinformatics·Nastaran Maus EsfahaniPaul J Kennedy

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