SynthesisJournal of the American Academy of Child and Adolescent Psychiatry2013
Distribution of disease-associated copy number variants across distinct disorders of cognitive development.
Synthesis in Journal of the American Academy of Child and Adolescent Psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed.
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Schizophrenia Biomarkers: Blood Transcriptome Suggests Two Molecular Subtypes.Neuromolecular medicine · 2024Article
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
- Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses.Frontiers in cell and developmental biology · 2022Article
- Comprehensive Gene Expression Analysis Detects Global Reduction of Proteasome Subunits in Schizophrenia.Schizophrenia bulletin · 2021Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.Cell · 2018Article
- Assessing the evidence for shared genetic risks across psychiatric disorders and traits.Psychological medicine · 2018Review
- A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.Biological psychiatry · 2018Article
- Article
- Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.Translational psychiatry · 2017Article
- Pathway-wide association study identifies five shared pathways associated with schizophrenia in three ancestral distinct populations.Translational psychiatry · 2017Article
- Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.Translational psychiatry · 2016Article
- Delivery of epilepsy care to adults with intellectual and developmental disabilities.Neurology · 2015Review
- Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Genomic imbalances in pediatric patients with chronic kidney disease.The Journal of clinical investigation · 2015Observational
- Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.Journal of the American Academy of Child and Adolescent Psychiatry · 2014Article
- Familial risk of epilepsy: a population-based study.Brain : a journal of neurology · 2014Article
- Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape.Current genetic medicine reportsReview
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
objectiveThe purpose of the present study was to discover the extent to which distinct DSM disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs.
methodSystematic review of 820 PubMed articles on autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia, and epilepsy produced 54 CNVs associated with one or several disorders. Pathway analysis on genes implicated by CNVs in different groupings was conducted.
resultsThe majority of CNVs were found in ID with the other disorders somewhat subsumed, yet certain CNVs were associated with isolated or groups of disorders. Based on genes implicated by CNVs, ID encompassed 96.8% of genes in ASD, 92.8% of genes in schizophrenia, and 100.0% of genes in epilepsy. Pathway analysis revealed that synapse processes were enriched in ASD, ID, and schizophrenia. Disease-specific processes were identified in ID (actin cytoskeleton processes), schizophrenia (ubiquitin-related processes), and ASD (synaptic vesicle transport and exocytosis).
conclusionsIntellectual disability may arise from the broadest range of genetic pathways, and specific subsets of these pathways appear to be relevant to other disorders or combinations of these disorders. It is clear that statistically significant CNVs across disorders of cognitive development are highly enriched for biological processes related to the synapse. There are also disorder-specific processes that may aid in understanding the distinct presentations and pathophysiology of these disorders.
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