ArticleHuman molecular genetics2012
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 3 of them syntheses that pooled it.
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Who cites it
123 citing papers in PubMed, 3 syntheses or guidelines pooled it, 177 citations in OpenAlex.
- Altered expression of histamine signaling genes in autism spectrum disorder.Translational psychiatry · 2017Pooled it
- Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research.Pediatrics · 2015Guideline
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- GABAergic Inhibition Gates Perceptual Awareness During Binocular Rivalry.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Trial
- The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability.Cells · 2026Review
- Molecular and cell type-specific determinants of inferior colliculus development and auditory function.bioRxiv : the preprint server for biology · 2026Article
- Cross-species functional analysis of aResearch square · 2026Article
- GluD1 at the synaptic crossroads: from domain structure to circuit dysfunction.Acta pharmacologica Sinica · 2026Review
- Glutamate delta-1 receptors regulate a tonic excitatory conductance in the mouse bed nucleus of the stria terminalis and influence neuronal function.Psychopharmacology · 2026Article
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Glutamate Delta 1 Receptor in Synapses, Circuits, and Disease.The European journal of neuroscience · 2026Review
- Deletion of Glutamate Delta 1 Receptor Leads to Heterogeneous Transcription and Synaptic Gene Alterations Across Brain Regions.International journal of molecular sciences · 2025Article
- Association between GRIK1 rs363598 and intergenic rs360932 variants and susceptibility to autism spectrum disorders in Egyptian children.BMC pediatrics · 2025Article
- Central role of regular firing neurons of centrolateral amygdala in affective behaviors.iScience · 2025Article
- Histaminergic System Activity in the Central Nervous System: The Role in Neurodevelopmental and Neurodegenerative Disorders.International journal of molecular sciences · 2024Review
- GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.Molecular psychiatry · 2024Article
- Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.Human molecular genetics · 2024Article
- GluD receptors are functional ion channels.Biophysical journal · 2023Review
- Case Report-An Inherited Loss-of-FunctionGenes · 2023Article
- Molecular signatures of post-traumatic stress disorder in war-zone-exposed veteran and active-duty soldiers.Cell reports. Medicine · 2023Article
63 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
Abstract
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic loci have been replicated. Copy number variations (CNVs) have been implicated in autism; however, the majority of loci contribute to <1% of the disease population. Therefore, independent studies are important to refine associated CNV regions and discover novel susceptibility genes. In this study, a genome-wide SNP array was utilized for CNV detection by two distinct algorithms in a European ancestry case-control data set. We identify a significantly higher burden in the number and size of deletions, and disrupting more genes in ASD cases. Moreover, 18 deletions larger than 1 Mb were detected exclusively in cases, implicating novel regions at 2q22.1, 3p26.3, 4q12 and 14q23. Case-specific CNVs provided further evidence for pathways previously implicated in ASDs, revealing new candidate genes within the GABAergic signaling and neural development pathways. These include DBI, an allosteric binder of GABA receptors, GABARAPL1, the GABA receptor-associated protein, and SLC6A11, a postsynaptic GABA transporter. We also identified CNVs in COBL, deletions of which cause defects in neuronal cytoskeleton morphogenesis in model vertebrates, and DNER, a neuron-specific Notch ligand required for cerebellar development. Moreover, we found evidence of genetic overlap between ASDs and other neurodevelopmental and neuropsychiatric diseases. These genes include glutamate receptors (GRID1, GRIK2 and GRIK4), synaptic regulators (NRXN3, SLC6A8 and SYN3), transcription factor (ZNF804A) and RNA-binding protein FMR1. Taken together, these CNVs may be a few of the missing pieces of ASD heritability and lead to discovering novel etiological mechanisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.