Aberrant white matter microstructure in children with 16p11.2 deletions
Open accessAbstract
Copy number variants (CNVs) of the chromosomal locus 16p11.2, consisting of either deletions or duplications, have been implicated in autism, schizophrenia, epilepsy, and other neuropsychiatric disorders. Since abnormal white matter microstructure can be seen in these more broadly defined clinical disorders, we used diffusion magnetic resonance imaging and tract-based spatial statistics to investigate white matter microstructural integrity in human children with 16p11.2 deletions. We show that deletion carriers, compared with typically developing matched controls, have increased axial diffusivity (AD) in many major central white matter tracts, including the anterior corpus callosum as well as bilateral internal and external capsules. Higher AD correlated with lower nonverbal IQ in the deletion carriers, but not controls. Increases in fractional anisotropy and mean diffusivity were also found in some of the same tracts with elevated AD. Closer examination with neurite orientation dispersion and density imaging revealed that fiber orientation dispersion was decreased in some central white matter tracts. Notably, these alterations of white matter are unlike microstructural differences reported for any other neurodevelopmental disorders, including autism spectrum disorders that have phenotypic overlap with the deletion carriers. These findings suggest that deletion of the 16p11.2 locus is associated with a unique widespread pattern of aberrant white matter microstructure that may underlie the impaired cognition characteristic of this CNV.
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Atypical neural variability in carriers of 16p11.2 copy number variants
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Corpus callosum in cognitive and sensory processing: insights into autism
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Diffusion Tensor Magnetic Resonance Imaging – Physical Principles
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Chromosome Instability Syndromes
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TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers
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Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome
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Oligogenic effects of 16p11.2 copy number variation on craniofacial developmentPreprint
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Chromosome Abnormalities Detected at Prenatal Diagnosis
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The Origins and Consequences of Chromosome Pathology
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Elements of Medical Cytogenetics
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Preimplantation Genetic Diagnosis
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Uniparental Disomy and Disorders of Imprinting
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Sex Chromosome Aneuploidy and Structural Rearrangement
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Specific Functions of ERK/MAPK Signaling in Brain Development and Neurocognition
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Self-citationOligogenic Effects of 16p11.2 Copy Number Variation on Craniofacial DevelopmentPreprint
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TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication CarriersPreprint
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Deriving and Using A Risk Figure
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Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0024
Chromosomal Disorders of Sex Development
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0023
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Autosomal Structural Rearrangements
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Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0020
Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age
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Complex Chromosomal Rearrangements
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Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0012
Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2Preprint
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- Authors
- Owen, J. P., Chang, Y. S., Pojman, N. J., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., Buckner, R. L., Roberts, T. P. L., Nagarajan, S. S., Sherr, E. H., & Mukherjee, P.
- Affiliations
- Children's Hospital of Philadelphia (US)
- University of California, San Francisco (US)
- Simons Foundation (US)
- Columbia University Irving Medical Center (US)
- Harvard University (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2014-04-30
- Volume
- 34
- Issue
- 18
- Pages
- 6214-6223
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6608115
- OpenAlex
- W2049115342
- Cited by
- 113
- References
- 34
- Citations by year
- 2025: 5 · 2024: 6 · 2023: 5 · 2022: 3 · 2021: 5 · 2020: 8 · 2019: 11 · 2018: 41 · 2017: 7 · 2016: 9 · 2015: 9 · 2014: 4
- FWCI
- 7.56
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-sa)
- Funders
- Simons Foundation Autism Research Initiative
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced Neuroimaging Techniques and Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 16p11.2 deletion, copy number variation, white matter microstructure, axial diffusivity, fractional anisotropy, corpus callosum, internal capsule, external capsule, nonverbal intelligence, neurodevelopmental disorders, children
- MeSH terms
- Adolescent, Autistic Disorder, Biophysics, Brain, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition Disorders, Female, Humans, Image Processing, Computer-Assisted, Male, Intellectual Disability, Models, Neurological, Nerve Fibers, Myelinated, Statistics as Topic, Case-Control Studies, Anisotropy, Chromosome Disorders, Diffusion Magnetic Resonance Imaging, Leukoencephalopathies
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