Copy number variants in autism spectrum disorders

Research output: Contribution to journalReview article

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.

Original languageEnglish
Pages (from-to)421-427
Number of pages7
JournalProgress in Neuro-Psychopharmacology and Biological Psychiatry
Volume92
DOIs
Publication statusE-pub ahead of print - Feb 20 2019

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Genomic Structural Variation
Comparative Genomic Hybridization
Human Genome
Single Nucleotide Polymorphism
Autism Spectrum Disorder
Genome
Neurodevelopmental Disorders

Cite this

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title = "Copy number variants in autism spectrum disorders",
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.",
author = "Stefano Vicari and Eleonora Napoli and Viviana Cordeddu and Deny Menghini and Viola Alesi and Sara Loddo and Antonio Novelli and Marco Tartaglia",
note = "Copyright {\circledC} 2019 Elsevier Inc. All rights reserved.",
year = "2019",
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doi = "10.1016/j.pnpbp.2019.02.012",
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T1 - Copy number variants in autism spectrum disorders

AU - Vicari, Stefano

AU - Napoli, Eleonora

AU - Cordeddu, Viviana

AU - Menghini, Deny

AU - Alesi, Viola

AU - Loddo, Sara

AU - Novelli, Antonio

AU - Tartaglia, Marco

N1 - Copyright © 2019 Elsevier Inc. All rights reserved.

PY - 2019/2/20

Y1 - 2019/2/20

N2 - 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.

AB - 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.

U2 - 10.1016/j.pnpbp.2019.02.012

DO - 10.1016/j.pnpbp.2019.02.012

M3 - Review article

C2 - 30797015

VL - 92

SP - 421

EP - 427

JO - Progress in Neuro-Psychopharmacology and Biological Psychiatry

JF - Progress in Neuro-Psychopharmacology and Biological Psychiatry

SN - 0278-5846

ER -