ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2017
Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Using structural MRI to identify bipolar disorders - 13 site machine learning study in 3020 individuals from the ENIGMA Bipolar Disorders Working Group.Molecular psychiatry · 2020Pooled it
- Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis.Molecular psychiatry · 2020Pooled it
- Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.Biological psychiatry global open science · 2026Article
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026Article
- Aberrant pace of cortical neuron development in brain organoids from patients with 22q11.2 deletion syndrome-associated schizophrenia.Nature communications · 2025Article
- Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank.International journal of molecular sciences · 2025Article
- Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.Human brain mapping · 2024Article
- Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients.Imaging neuroscience (Cambridge, Mass.) · 2024Article
- Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.Autism research : official journal of the International Society for Autism Research · 2023Article
- Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations.bioRxiv : the preprint server for biology · 2023Article
- Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome-A Retrospective Analysis.Diagnostics (Basel, Switzerland) · 2023Article
- Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.Nature human behaviour · 2023Article
- Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.medRxiv : the preprint server for health sciences · 2023Article
- The impact of 22q11.2 copy-number variants on human traits in the general population.American journal of human genetics · 2023Article
- How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?Genetics and molecular biology · 2023Article
- Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls.Molecular psychiatry · 2022Article
- Article
- Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance.Journal of neurodevelopmental disorders · 2022Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11.2 duplications (22q-dup; 14 males), and 56 age- and sex-matched controls (31 males). 22q11.2 gene dosage varied positively with intracranial volume, gray and white matter volume, and cortical surface area (deletion < control < duplication). In contrast, gene dosage varied negatively with mean cortical thickness (deletion > control > duplication). Widespread differences were observed for cortical surface area with more localized effects on cortical thickness. These diametric patterns extended into subcortical regions: 22q-dup carriers had a significantly larger right hippocampus, on average, but lower right caudate and corpus callosum volume, relative to 22q-del carriers. Novel subcortical shape analysis revealed greater radial distance (thickness) of the right amygdala and left thalamus, and localized increases and decreases in subregions of the caudate, putamen, and hippocampus in 22q-dup relative to 22q-del carriers. This study provides the first evidence that 22q11.2 is a genomic region associated with gene-dose-dependent brain phenotypes. Pervasive effects on cortical surface area imply that this copy number variant affects brain structure early in the course of development.
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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.