Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism

Keywords

Copy-number variation, Proband, Genetics, Autism, Autism spectrum disorder

References

• A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletionAnn Goodwin — 2009
• Williams-Beuren syndrome.X. Gamé, Jalesh Panicker, Clare J. Fowler — 2010
• Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.Edwin H. Cook, V Lindgren, Bennett Leventhal — 1997
• Clinical Genetic Testing for Patients With Autism Spectrum DisordersRichard Reading — 2010
• Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE ComplexMichael C. Gao, Ursula Bellugi, Li Dai — 2010
• Association between microdeletion and microduplication at 16p11.2 and autism.Lauren A. Weiss, Yiping Shen, Joshua M. Korn — 2008
• Strong Association of De Novo Copy Number Mutations with AutismJonathan Sebat, B. Lakshmi, Dheeraj Malhotra — 2007
• Strong association of de novo copy number mutations with sporadic schizophreniaBin Xu, Johannes L. Roos, Shawn Levy — 2008
• The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood.Paul Lichtenstein, Eva Carlström, Maria Råstam — 2010
• PCA-based population structure inference with generic clustering algorithmsChih Lee, Ali Abdool, Chun-Hsi Huang — 2009
• Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patientsSabine M. Klauck, Ewald Münstermann, Bettina Bieber-Martig — 1997
• Large recurrent microdeletions associated with schizophreniaGROUP, Hreinn Stefánsson, Dan Rujescu — 2008
• Rare de novo and transmitted copy-number variation in autistic spectrum disorders.Dan Levy, Michael Ronemus, Boris Yamrom — 2011
• Combining information from multiple sources in the diagnosis of autism spectrum disorders.Susan Risi, Catherine Lord, Katherine Gotham — 2006
• Estimating the Number of Species: A ReviewJohn Bunge, Matthew C. Fitzpatrick — 1993
• Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman — 2006
• Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 DuplicationsDouglas F. Levinson, Jubao Duan, Sang‐Yun Oh — 2011
• Rethinking the nature of genetic vulnerability to autistic spectrum disorders.David Skuse — 2007
• Chromosomal abnormalities in a clinic sample of individuals with autistic disorderThomas H. Wassink, Joseph Piven, Shivanand R. Patil — 2001
• Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice.Yanghong Meng, Yu Zhang, Vitali Tregoubov — 2002

Cited by

• Autism risk factors: genes, environment, and gene-environment interactionsPauline Chaste, Marion Leboyer — 2012
• Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison.Michael Böhm, Magnus Baumhäkel, Koon Teo — 2011
• Behavioral signatures related to genetic disorders in autism玄 遠藤, 茂男 広瀬 — 2014
• Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19pB. C. Burchfiel, L. H. Royden — 2014
• Novel splice variants in the 5'UTR of Gtf2i expressed in the rat brain: alternative 5'UTRs and differential expression in the neuronal dendritesYoshinori Shirai, Masahiko Watanabe, Hiroyuki Sakagami — 2015
• Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.Harrison Brand, Ryan L. Collins, Carrie Hanscom — 2015
• Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to DateAlberto Villanueva — 2015
• Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophreniaAntonio García Montes — 2017
• Cadherin-13 Deficiency Increases Dorsal Raphe 5-HT Neuron Density and Prefrontal Cortex Innervation in the Mouse BrainSameer Bajaj, Lee Sproull — 2017
• The Emerging Clinical Neuroscience of Autism Spectrum Disorder: A ReviewAlamin Mazrui, Ibrahim Noor Shariff — 2018
• 16p11.2 microdeletion syndrome: a case reportAbdul Kadir — 2018
• Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disordersJohan H. Thygesen, Kate Wolfe, Andrew McQuillin — 2018
• The copy number variation landscape of congenital anomalies of the kidney and urinary tractХарламова Ольга Александровна — 2018
• Molecular-genetic mechanisms of memory formation in mouse models of neurodevelopmental and neuropsychiatric disordersHannah Schoch — 2014
• Facteurs génétiques impliqués dans l’autisme : revue de la littérature et recommandations cliniquesPauline Chaste, R Delorme, Marion Leboyer — 2014
• Clinical neurogenetics: autism spectrum disorders.Sunil Mehta, Peyman Golshani — 2013
• Modeling autism spectrum disorders with human neuronsPatrícia Cristina Baleeiro Beltrão-Braga, Alysson R. Muotri — 2016
• A contemporary view of genes and behavior: complex systems and interactions.Douglas Wahłsten — 2013
• Array CGH in brain tumors.Gayatry Mohapatra, Julia Sharma, Stephen Yip — 2013
• Genetic studies of autism and autistic-like traitsLina Jönsson — 2015

Related papers

• The Proband-Sibling Design in Psychiatry, with Two Technical NotesDavid R. Offord, Marshall B. Jones — 1976
• The impact of privacy protections on recruitment in a multicenter stroke genetics studyD. T. Chen, Bradford B. Worrall, Robert D. Brown — 2005
• Estimation of association of CNTN6 copy number variation with idiopathic intellectual disabilityМ. Е. Лопаткина, А. А. Кашеварова, И. Н. Лебедев — 2016
• Prevalence and spectrum of single-gene CNVs in patients with intellectual disabilityА. А. Кашеварова, М. Е. Лопаткина, Е. О. Беляева — 2021
• 7.2 Diagnosing Co-Occurring Mental Disorders in Children and Adolescents With Intellectual Disability/Intellectual Developmental DisorderKerim Münir — 2017
• Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disordersNoboru Hiroi, Tomohisa Takahashi, Akitoyo Hishimoto — 2013
• 7.1 Understanding the Intellectual Developmental Disorder Adaptive Reasoning Paradigm Shift in DSM-5James C. Harris — 2017