15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia
Open accessAbstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1–BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1–BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1–BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
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Deletion of 15q11.2(BP1-BP2) leads to a two- to fourfold increase in the risk for schizophrenia, autism and intellectual disability.
“Deletion of 15q11.2(BP1–BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1–5].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [5]
The Results (Neuropsychology; page not provided) associate the 15q11.2(BP1–BP2) deletion with schizophrenia. They mention autism and intellectual disability as possible phenotypes of neuropsychiatric CNVs generally, but do not give a two- to fourfold risk increase for the three named conditions. The reported odds ratios concern dyslexia and dyscalculia instead. (LLM, conf=0.87)
Experimental — accuracy not yet measuredMarked changes to white matter in corpus callosum microstructure are seen in the Cyfip1 rat model, 15q11.2del CNV carriers, and Cyfip1-deficient mice.
“In all three species, marked changes to white matter were seen in corpus callosum microstructure, consistent with previous findings reported by Ulfarsson [5], and with reduced callosal volume observed in patients with schizophrenia [14].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [5]
The Results (Structural MRI phenotypes) report greater white-matter volume in the anterior corpus callosum of human 15q11.2 deletion carriers, consistent with a callosal white-matter change. The paper measures volume, not corpus callosum microstructure, and does not establish the claimed changes across all three species. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe 15q11.2 deletion is associated with learning disabilities (OR 4.4).
“learning disabilities (OR 4.4, dyslexia and dyscalculia combined).5”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [5]
Penetrance of copy number variants can be highly variable, ranging from subtle effects detectable by neuropsychological tests to mild anxiety or ADHD to co-occurrence of severe psychiatric disorders.
“penetrance can be highly variable, ranging from subtle effects detectable by neuropsychological tests to mild degrees of anxiety/ADHD to co-occurrence of severe psychiatric disorders (Kendall et al., 2017; Stefansson et al., 2014; Ulfarsson et al., 2017)”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Ulfarsson et al., 2017
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FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
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Copy Number Variations and Schizophrenia
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Identification of NCAN as a candidate gene for developmental dyslexia
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From Schools to Scans: A Neuroeducational Approach to Comorbid Math and Reading Disabilities
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A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism
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Behavioral and Psychiatric Disorders in Syndromic Autism
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Self-citationAdverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
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Dyscalculia and dyslexia in school-aged children: comorbidity, support, and future prospects
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Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa
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Self-citationUsing rare genetic mutations to revisit structural brain asymmetry
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Self-citationSpecific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families
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Neurogenomics – towards a more rigorous science
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A systematic review and meta-analysis of imaging genetics studies of specific reading disorder
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“2(BP1 – BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1 – 5].”
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Genetics of Dyscalculia 1: In Search of Genes
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Neurobiology of numerical learning
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The Paradox of Copy Number Variants in ASD and Schizophrenia: False Facts or False Hypotheses?
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Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease
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Neuropsychiatric copy number variants exert shared effects on human brain structurePreprint
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Developmental disabilities, autism, and schizophrenia at a single locus
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“Calculating faces”: can face perception paradigms enrich dyscalculia research?
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Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative ModelingPreprint
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Clinical application of prenatal chromosomal microarray
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A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon
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- Authors
- Ulfarsson, M. O., Walters, G. B., Gustafsson, O., Steinberg, S., Silva, A., Doyle, O. M., Brammer, M., Gudbjartsson, D. F., Arnarsdottir, S., Jonsdottir, G. A., Gisladottir, R. S., Bjornsdottir, G., Helgason, H., Ellingsen, L. M., Halldorsson, J. G., Saemundsen, E., Stefansdottir, B., Jonsson, L., Eiriksdottir, V. K., Eiriksdottir, G. R., Johannesdottir, G. H., Unnsteinsdottir, U., Jonsdottir, B., Magnusdottir, B. B., Sulem, P., Thorsteinsdottir, U., Sigurdsson, E., Brandeis, D., Meyer-Lindenberg, A., Stefansson, H., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- Cardiff University (GB)
- King's College London (GB)
- University of Iceland (IS)
- University of Zurich (CH)
- Corresponding author
- Ulfarsson, M O
- ORCID
- Venue
- Translational Psychiatry
- Published
- 2017-04-25
- Volume
- 7
- Issue
- 4
- Pages
- e1109-e1109
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC5416713
- OpenAlex
- W2608686001
- Cited by
- 78
- References
- 56
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 7 · 2023: 4 · 2022: 5 · 2021: 14 · 2020: 12 · 2019: 15 · 2018: 8 · 2017: 3
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Translational Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
- Opin vísindi (Opin vísindi) (submittedVersion, cc-by-nc-sa)
- Research Portal (King's College London) (submittedVersion, cc-by)
- Opin vísindi (Opin vísindi) (submittedVersion, cc-by)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- European Federation of Pharmaceutical Industries and Associations (FP7/20072013)
- European Commission (EU-FP7, 602450, 2007–2013, FP7 2007-2013, 115300, 286213, FP7/2007, 115008)
- Háskóli Íslands
- Innovative Medicines Initiative (FP7/2007‐2013, 115008, 115300)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Social Sciences › Psychology › Neuropsychology and Physiological Psychology › Developmental and Educational Neuropsychology
- Keywords
- copy number variation, dyslexia, dyscalculia, specific learning disabilities, fusiform gyrus, angular gyrus, corpus callosum, phonological processing, multiplication, brain activation
- MeSH terms
- Adolescent, Adult, Aged, Developmental Disabilities, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 15, Cognition, Dyslexia, Female, Heterozygote, Humans, Iceland, Magnetic Resonance Imaging, Male, Intellectual Disability, Middle Aged, Neuropsychological Tests, Phenotype, Temporal Lobe, Young Adult, DNA Copy Number Variations, Functional Neuroimaging, Dyscalculia
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