Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry
Open accessAbstract
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. SIGNIFICANCE STATEMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understand mechanisms underlying deviations from typical brain and cognitive development. The 22q11.2 genomic region is particularly susceptible to chromosomal rearrangements and contains many genes crucial for neuronal development and migration. Not surprisingly, reciprocal genomic imbalances at this locus confer some of the highest known genetic risks for developmental neuropsychiatric disorders. Here we provide the first evidence that brain morphology differs meaningfully as a function of reciprocal genomic variation at the 22q11.2 locus. Cortical thickness and surface area were affected in opposite directions with more widespread effects of gene dosage on cortical surface area.
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Different genetic disorders show measurable differences in how phenotypes are expressed.
“At the same time there are measurable differences in phenotypic expression between different genetic disorders, which can serve as windows into distinct molecular subtypes of ASD.”
From Getting to the cores of autism (2019) · cites this paper as Lin et al., 2017
At multiple loci, reciprocal deletions and duplications are linked to opposite brain phenotypes in circuits for social cognition, language, and reward.
“For example, reciprocal deletions of duplications of multiple loci associate with opposing brain phenotypes in neural circuits involved in social cognition, language and reward (Deshpande and Weiss, 2018; Lin et al., 2017; Maillard et al., 2015).”
From Getting to the cores of autism (2019) · cites this paper as Lin et al., 2017
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Coppola, G., Choi, S.-H., Santos, M. M., Miranda, C. J., Tentler, D., Wexler, E., Pandolfo, M., & Geschwind, D. H. (2006) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.11.014 · Cited by 53 · see citing works
The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths
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Shape matching with medial curves and 1-D group-wise registration
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Thalamic reductions in children with chromosome 22q11.2 deletion syndrome
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Gutman, B. A., Jahanshad, N., Ching, C. R. K., Wang, Y., Kochunov, P. V., Nichols, T. E., & Thompson, P. M. (2015) · IEEE International Symposium on Biomedical Imaging (ISBI) · doi:10.1109/isbi.2015.7164138 · Cited by 32 · see citing works
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Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Wechsler D, Coalson DL, Raiford SE (2008) WAIS-IV: Wechsler Adult In- telligence Scale. San Antonio: Pearson.
Cited by
Sorted by citations
Getting to the cores of autism
Iakoucheva, L. M., Muotri, A. R., & Sebat, J. (2019) · Cell · doi:10.1016/j.cell.2019.07.037 · Cited by 260 · see citing works
“For example, reciprocal deletions of duplications of multiple loci associate with opposing brain phenotypes in neural circuits involved in social cognition, language, and reward (Deshpande and Weiss, 2018; Lin et al., 2017; Maillard et al., 2015).”
BackgroundPhenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
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Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67 · see citing works
Self-citation
- Authors
- Lin, A., Ching, C. R. K., Vajdi, A., Sun, D., Jonas, R. K., Jalbrzikowski, M., Kushan-Wells, L., Pacheco Hansen, L., Krikorian, E., Gutman, B., Dokoru, D., Helleman, G., Thompson, P. M., & Bearden, C. E.
- Affiliations
- University of California, Los Angeles (US)
- University of Southern California (US)
- University of Pittsburgh (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2017-05-23
- Volume
- 37
- Issue
- 26
- Pages
- 6183-6199
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6705695
- OpenAlex
- W2617908176
- Cited by
- 69
- References
- 87
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 6 · 2022: 8 · 2021: 17 · 2020: 11 · 2019: 4 · 2018: 14
- FWCI
- 5.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Neuroscience (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Simons Foundation
- National Institutes of Health (EB020403)
- National Institute of Mental Health (R01MH085953, T32MH073526, MH085953, RO1 MH085953, R37MH085953)
- National Cancer Institute
- National Institute of Biomedical Imaging and Bioengineering (U54EB020403, P41EB015922)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD087101)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 22q11.2, gene dosage, copy number variation, 22q11.2 deletion, 22q11.2 duplication, brain morphometry, cortical thickness, cortical surface area, hippocampus, caudate nucleus, corpus callosum, amygdala, thalamus, neurodevelopmental disorders
- MeSH terms
- Brain, Brain Mapping, Female, Humans, Male, Middle Aged, Organ Size, Gene Rearrangement, Gene Dosage, DNA Copy Number Variations, 22q11 Deletion Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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