Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Open accessAbstract
Growing genetic evidence is converging in favor of common pathogenic mechanisms for autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and schizophrenia (SCZ), three neurodevelopmental disorders affecting cognition and behavior. Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental disorders, but no such associations have been reported for NRXN2 or NRXN3. From resequencing the three neurexin genes in individuals affected by ASD (n = 142), SCZ (n = 143) or non-syndromic ID (n = 94), we identified a truncating mutation in NRXN2 in a patient with ASD inherited from a father with severe language delay and family history of SCZ. We also identified a de novo truncating mutation in NRXN1 in a patient with SCZ, and other potential pathogenic ASD mutations. These truncating mutations result in proteins that fail to promote synaptic differentiation in neuron coculture and fail to bind either of the established postsynaptic binding partners LRRTM2 or NLGN2 in cell binding assays. Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders.
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Deleterious mutations in synaptic proteins are linked to ID and ASD, and many animal models show deficits in synapse structure and/or function.
“Deleterious mutations in synaptic proteins are linked to these disorders and many animal models display deficits related to synapse structure and/or function”
From Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses (2012) · cites this paper as Gauthier et al., 2011
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“Of these, the neurexin-1 (nrxn1) gene has been linked directly to ASD and SCZ (Kim et al. 2008; Rujescu et al. 2009, Glessner et al. 2009; Ching et al. 2010; Gauthier et al. 2011).”
- Authors
- Gauthier, J., Siddiqui, T. J., Huashan, P., Yokomaku, D., Hamdan, F. F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafrenière, R. G., Fathalli, F., Joober, R., Krebs, M.-O., DeLisi, L. E., Mottron, L., Fombonne, É., Michaud, J. L., Drapeau, P., Carbonetto, S., Craig, A. M., & Rouleau, G. A.
- Affiliations
- Centre Hospitalier de l’Université de Montréal (CA)
- University of British Columbia (CA)
- CHU Sainte-Justine Research Center (CA)
- Université de Montréal (CA)
- Douglas Mental Health University Institute (CA)
- Centre Hospitalier Sainte-Anne (FR)
- Harvard University (US)
- Hôpital Rivière-des-Prairies (CA)
- Montreal General Hospital (CA)
- Corresponding author
- Craig, Ann Marie
- Rouleau, Guy A.
- ORCID
- Venue
- Human Genetics
- Published
- 2011-03-22
- Volume
- 130
- Issue
- 4
- Pages
- 563-573
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC3204930
- OpenAlex
- W2037116272
- Cited by
- 286
- References
- 44
- Citations by year
- 2026: 10 · 2025: 18 · 2024: 17 · 2023: 8 · 2022: 17 · 2021: 15 · 2020: 14 · 2019: 15 · 2018: 15 · 2017: 25 · 2016: 27 · 2015: 19 · 2014: 17 · 2013: 33 · 2012: 24
- FWCI
- 16.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Genome Canada
- Génome Québec
- Université de Montréal
- Canadian Institutes of Health Research (MOP84241)
- National Institute of Mental Health (MH70860, R01MH070860)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- NRXN1, neurexin, autism spectrum disorder, schizophrenia, intellectual disability, truncating mutations, de novo mutations, synaptic differentiation, synaptic proteins, neurodevelopmental disorders, genetic pathogenesis
- MeSH terms
- Amino Acid Sequence, Animals, Calcium-Binding Proteins, Cells, Cultured, Chlorocebus aethiops, Child, Child Development Disorders, Pervasive, Female, Humans, Language Development Disorders, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Neurons, Pedigree, Schizophrenia, Cohort Studies, Cell Adhesion Molecules, Neuronal, Case-Control Studies, Sequence Homology, Amino Acid, Gene Dosage, Neural Cell Adhesion Molecules, COS Cells, Genetic Predisposition to Disease, Mice
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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