Copy number variation: what is it and what has it told us about child psychiatric disorders?

paper Cited Public

Authors: Thapar, Anita; Cooper, Miriam
Year: 2013
Journal: Journal of the American Academy of Child and Adolescent Psychiatry
PMID: 23880486
DOI: 10.1016/j.jaac.2013.05.013
PMCID: PMC3919207

#	Section	Preview
0	What Are Copy Number Variants?	There are multiple types of genetic alterations that contribute to human variability, many of which…
1	What Are the CNV Findings for Child Psychiatric Disorders?	There are several well-characterized rare developmental phenotypes caused by CNVs of known…
2	What Are the CNV Findings for Child Psychiatric Disorders?	Risk factors for complex disorders tend to be of small effect size (odds ratios of <2), and this has…
3	What Are the CNV Findings for Child Psychiatric Disorders?	Psychiatric disorders mainly have a complex, multifactorial etiology. Apart from some infrequent…
4	What Have CNV Findings Told Us? — CNV Mutations Can Arise De Novo	Genetic data from parents are required to identify whether variants are inherited or have arisen de…
5	What Have CNV Findings Told Us? — CNVs Span Traditional Diagnostic Boundaries	Although ASD, ADHD, schizophrenia, and ID have clinically distinctive defining features, one key and…
6	What Have CNV Findings Told Us? — CNVs Can Provide Clues to Biology	The chromosomal regions that harbor CNVs observed to be associated with psychiatric disorder are…
7	What Are the Clinical Implications—and What Next?	To interpret CNV findings in a clinically meaningful way is challenging. Essentially it is difficult…
8	What Are the Clinical Implications—and What Next?	Advances in techniques for detecting submicroscopic chromosomal abnormalities have meant screening…
9	What Are the Clinical Implications—and What Next?	Nonetheless, the establishment of CNVs as risks for psychiatric disorders is an important…

Name	Type
ADHD	phenotype
ASD	phenotype
attention deficit hyperactivity disorder	phenotype
autism spectrum disorder	phenotype
childhood conduct disorder	phenotype
cigarettes	phenotype
CNV	variant
CNVs	variant
common variants	cohort
complex disorders	phenotype
congenital anomalies	phenotype
congenital rubella local	phenotype
copy number variation	variant
Copy number variation (CNV)	variant
de novo variant	variant
Developmental morbidities local	phenotype
environmental factors	drug
epilepsy	phenotype
fetal alcohol syndrome	phenotype
genetic syndrome local	phenotype
ID	phenotype
Idiopathic ID local	phenotype
intellectual disability	phenotype
large rare CNVs	variant
lung cancer	phenotype
Neurodevelopmental and Psychiatric Disorders local	phenotype
neurodevelopmental disorder	phenotype
neurodevelopmental phenotype	phenotype
paternal age	phenotype
Prader-Willi syndrome	phenotype
psychiatric disorders	phenotype
rare CNVs	variant
risk CNV local	variant
schizophrenia	phenotype
single nucleotide polymorphism	variant
Smith-Magenis syndrome local	phenotype
structural variant	cohort
Submicroscopic chromosomal abnormalities local	variant
Syndromic ASD local	phenotype
Velocardiofacial syndrome	phenotype

Citation	PMID	DOI	Status
Cooper, G.M. et al., Nat Genet, 2011, A copy number variation morbidity map of developmental delay	21841781	10.1038/ng.909	Cited
Girirajan, S. et al., PLoS Genet, 2011, Relative burden of large CNVs on a range of neurodevelopmental phenotypes	22102821	10.1371/journal.pgen.1002334	Cited
Sullivan, P.F. et al., Nat Rev Genet, 2012, Genetic architectures of psychiatric disorders: the emerging picture and its implications	22777127	10.1038/nrg3240	Cited
Williams, N.M. et al., Am J Psychiatry, 2012, Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3	22420048	10.1176/appi.ajp.2011.11060822	Cited
Williams, N.M. et al., Lancet, 2010, Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis	20888040	10.1016/S0140-6736(10)61109-9	Cited

In this knowledge base

Title	Year	PMID
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.	2014	25062598

External

Title	Authors	Journal	Year	Link
Copy number variations in autistic children.	Alhazmi S et al.	—	2024	→
Inhibitory dysfunction and social processing difficulties in autism: A comprehensive narrative review.	Parrella NF et al.	—	2024	→
Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism.	Eftekhar M et al.	—	2023	→
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.	Ghorbani F et al.	—	2023	→
Copy Number Variations and Schizophrenia.	Szecówka K et al.	—	2023	→
Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.	Kereszturi É	—	2023	→
Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.	Lambrescu I et al.	—	2022	→
Multiclass Cancer Prediction Based on Copy Number Variation Using Deep Learning.	Attique H et al.	—	2022	→
Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.	Marsili L et al.	—	2022	→
High Olfactory Receptor-Rich 11q11 Copy Number in Girls and African American Children.	Phillips M et al.	—	2021	→
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.	Saarentaus EC et al.	—	2021	→
ClassifyCNV: a tool for clinical annotation of copy-number variants	Gurbich TA et al.	—	2020	—
ClassifyCNV: a tool for clinical annotation of copy-number variants.	Gurbich TA et al.	—	2020	→
Consanguinity and Autism.	Roy N et al.	—	2020	→
Contribution of de novo and inherited rare CNVs to very preterm birth.	Wong HS et al.	—	2020	→
Dynamic Crowding Regulates Transcription.	Shim AR et al.	—	2020	→
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.	Oliva-Teles N et al.	—	2020	→
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?	Mates J et al.	—	2020	→
Autism spectrum disorder: Trends in research exploring etiopathogenesis.	Gyawali S et al.	—	2019	→
Genetic Causes and Modifiers of Autism Spectrum Disorder.	Rylaarsdam L et al.	—	2019	→
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.	Cañadas-Garre M et al.	—	2019	→
How many copies of <i>GSTM1</i> and <i>GSTT1</i> are associated with head and neck cancer risk?	Firigato I et al.	—	2019	→
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.	Lauhasurayotin S et al.	—	2019	→
Association of copy number variation across the genome with neuropsychiatric traits in the general population.	Guyatt AL et al.	—	2018	→
Gene-environment interaction of monoamine oxidase A in relation to antisocial behaviour: current and future directions.	Nilsson KW et al.	—	2018	→
Genetic testing in children and adolescents with intellectual disability.	Bass N et al.	—	2018	→
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.	Overwater E et al.	—	2018	→
Rigor and reproducibility in genetic research on eating disorders.	Hübel C et al.	—	2018	→
Genetic epidemiology of neural tube defects.	Lupo PJ et al.	—	2017	→
The Research Domain Criteria (RDoC) Project and Studies of Risk and Resilience in Maltreated Children.	Kaufman J et al.	—	2015	→
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.	McGrath LM et al.	—	2014	→
Editorial perspective: Why is there such a mismatch between traditional heritability estimates and molecular genetic findings for behavioural traits?	Thapar A et al.	—	2014	→