Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Psychiatric Genetics
Hanne S SorteOlaug K Rødningen


Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic aetiology. The aim of this study was to identify copy number variations (CNVs) with a clinical significance for ASD. Array-based comparative genomic hybridization was applied to detect CNVs in a clinically well-characterized population of 50 children and adolescents with ASD. Nine CNVs with predicted clinical significance were identified among eight individuals (detection rate 16%). Three of the CNVs are recurrently associated with ASDs (15q11.2q13.1) or have been identified in ASD populations [3p14.2 and t(8;12)(p23.1;p13.31)]. The remaining regions (15q11.2, 10q21.1, Xp22.2, 16p13.3 and 22q13.1) have not been reported previously as candidate genes for ASD. This study identified five novel CNVs among the individuals. The causal relationship between identified CNVs and the ASD phenotype is not fully established. However, the genes involved are associated with ASD and/or other neuropsychiatric disorders, or implicated in synaptic and neuronal activity, thus suggesting clinical significance. Further identification of ASD-associated CNVs is required, together with a broad clinical characterization of affected individuals...Continue Reading


Jan 1, 1995·Psychological Medicine·A BaileyMichael L Rutter
May 2, 1997·The Journal of Biological Chemistry·M TakeuchiY Takai
Mar 26, 1999·American Journal of Human Genetics·K DevriendtJ R Vermeesch
Sep 2, 1999·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·R KikunoO Ohara
Sep 3, 1999·Psychological Medicine·Eric Fombonne
Mar 29, 2002·Molecular Psychiatry·Joseph D BuxbaumR Vitale
Sep 26, 2003·American Journal of Human Genetics·Kristien VerhoevenVincent Timmerman
Mar 10, 2004·Proceedings of the National Academy of Sciences of the United States of America·Yuri PekarskyCarlo M Croce
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
May 13, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Iuliia VitkoEdward Perez-Reyes
Feb 10, 2006·Journal of Medical Genetics·K RehnströmI Järvelä
Jun 7, 2006·The Journal of Biological Chemistry·Igor SplawskiMark T Keating
Dec 15, 2006·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·F Gregory WulczynRobert Nitsch
Feb 27, 2007·Nature Genetics·Autism Genome Project ConsortiumKacie J Meyer
Mar 17, 2007·Science·Jonathan SebatMichael Wigler
Nov 7, 2007·Nature Structural & Molecular Biology·Sukesh R BhaumikAli Shilatifard
Nov 16, 2007·Pflügers Archiv : European journal of physiology·Nael Nadif Kasri, Linda Van Aelst
Dec 7, 2007·Genome Research·Philippe P LuediAlexander J Hartemink
Apr 1, 2008·Biological Psychiatry·Susan L ChristianEdwin H Cook
Apr 17, 2008·Nature Reviews. Genetics·Brett S Abrahams, Daniel H Geschwind
Jun 17, 2008·Schizophrenia Research·Michelle L EsterbergElaine F Walker
Aug 22, 2008·European Journal of Human Genetics : EJHG·Mary GlancyJ C K Barber
Dec 23, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Lawrence R ShiowJennifer M Puck
Jan 13, 2009·Nature Genetics·Minerva M CarrasquilloSteven G Younkin
May 1, 2009·Nature·Joseph T GlessnerHakon Hakonarson
Jul 17, 2009·American Journal of Medical Genetics. Part a·Margaret J WatSung-Hae Lee Kang
Oct 27, 2009·Nature Genetics·Shane E McCarthyJonathan Sebat
Nov 6, 2009·Genome Medicine·Liam S Carroll, Michael J Owen
Nov 26, 2009·Molecular Psychiatry·R J DelahantyJames S Sutcliffe
Dec 25, 2010·Autism Research : Official Journal of the International Society for Autism Research·D SalyakinaMargaret A Pericak-Vance
Feb 9, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Anna BremerJacqueline Schoumans
Jul 6, 2011·Archives of General Psychiatry·Joachim HallmayerNeil Risch
Jan 20, 2012·European Journal of Human Genetics : EJHG·Ron HochstenbachEdwin Cuppen


Jul 12, 2017·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Meric A Altinoz, Bahri Ince
Oct 14, 2017·Journal of Autism and Developmental Disorders·Eleonora NapoliStefano Vicari

Related Concepts

Related Feeds

Autism: Treatment Targets

The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological mechanisms, and the lack of reliable diagnostic biomarkers. Identification of more homogenous biological subgroups is therefore essential for the development of novel treatments based on the molecular mechanisms underpinning autism and autism spectrum disorders. Find the latest research on autism treatment targets here.


Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.