ArticleBiological psychiatry2019
Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Article in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
- White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.Translational psychiatry · 2026Article
- Chromatin remodeling factor BAF155 coordinates oligodendroglial-neuronal communications linked to regional myelination and autism-like behavioral deficits in mice.Nature communications · 2025Article
- Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility.Translational psychiatry · 2024Article
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 2023Review
- No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank.Translational psychiatry · 2023Article
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Human brain mapping · 2022Review
- Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers.Translational psychiatry · 2021Article
- Analysis of Diffusion Tensor Imaging Data From the UK Biobank Confirms Dosage Effect of 15q11.2 Copy Number Variation on White Matter and Shows Association With Cognition.Biological psychiatry · 2021Article
- Effects of eight neuropsychiatric copy number variants on human brain structure.Translational psychiatry · 2021Article
- Clinical evaluation of patients with a neuropsychiatric risk copy number variant.Current opinion in genetics & development · 2021Review
- Structural and functional brain alterations revealed by neuroimaging in CNV carriers.Current opinion in genetics & development · 2021Review
- 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.Translational psychiatry · 2021Article
- Role of Oligodendrocytes and Myelin in the Pathophysiology of Autism Spectrum Disorder.Brain sciences · 2020Review
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk.Translational psychiatry · 2020Article
- Psychosis risk is associated with decreased white matter integrity in limbic network corticostriatal tracts.Psychiatry research. Neuroimaging · 2020Article
- Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.Molecular autism · 2020Review
- Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.JAMA psychiatry · 2020Article
- Persistent Cyfip1 Expression Is Required to Maintain the Adult Subventricular Zone Neurogenic Niche.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is involved in actin cytoskeletal dynamics and interacts with the fragile X mental retardation protein. Absence of fragile X mental retardation protein causes fragile X syndrome. Because abnormal white matter microstructure has been reported in both fragile X syndrome and psychiatric disorders, we looked at the impact of 15q11.2 BP1-BP2 dosage on white matter microstructure.
methodsCombining a brain-wide voxel-based approach and a regional-based analysis, we analyzed diffusion tensor imaging data from healthy individuals with the deletion (n = 30), healthy individuals with the reciprocal duplication (n = 27), and IQ-matched control subjects with no large copy number variants (n = 19), recruited from a large genotyped population sample.
resultsWe found global mirror effects (deletion > control > duplication) on fractional anisotropy. The deletion group showed widespread increased fractional anisotropy when compared with duplication. Regional analyses revealed a greater effect size in the posterior limb of the internal capsule and a tendency for decreased fractional anisotropy in duplication.
conclusionsThese results show a reciprocal effect of 15q11.2 BP1-BP2 on white matter microstructure, suggesting that reciprocal chromosomal imbalances may lead to opposite changes in brain structure. Findings in the deletion overlap with previous white matter differences reported in fragile X syndrome patients, suggesting common pathogenic mechanisms derived from disruptions of cytoplasmic CYFIP1-fragile X mental retardation protein complexes. Our data begin to identify specific components of the 15q11.2 BP1-BP2 phenotype and neurobiological mechanisms of potential relevance to the increased risk for disorder.
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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.