Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Open accessAbstract
Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.
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The fourth M12 hub (CNTNAP1) is a homologue of the autism susceptibility gene CNTNAP2.
“while the fourth is a homologue of the autism susceptibility gene CNTNAP2 17 .”
From Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology (2011) · cites this paper as [17]
The opening summary (p. 1) reports evidence that CNTNAP2 is involved in autism, supporting its description as an autism-susceptibility gene. Our copy does not establish that CNTNAP1 is a homologue of CNTNAP2; a search for CNTNAP1 found no passage addressing that relationship. (LLM, conf=0.86)
Experimental — accuracy not yet measuredTwo common polymorphisms in a relatively circumscribed area of CNTNAP2 modulate language function in ASD and other conditions.
“Two common polymorphisms in a relatively circumscribed area of CNTNAP2 have been shown to modulate language function in ASD and other conditions [59–61].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [59]
Common variants in CNTNAP2 have also been associated with ASD and specific-language impairment.
“Common variants in CNTNAP2 have also been associated with ASD (49–51) and specific-language impairment (52).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [49]
Genetic mutations identified in small numbers of people with autism have been generated in mice.
“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [14]
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Self-citation
- Authors
- Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Cold Spring Harbor Laboratory (US)
- Emory University (US)
- Corresponding author
- Geschwind, Daniel H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-01
- Volume
- 82
- Issue
- 1
- Pages
- 150-159
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2253955
- OpenAlex
- W2126538155
- Cited by
- 818
- References
- 67
- Citations by year
- 2026: 15 · 2025: 12 · 2024: 19 · 2023: 19 · 2022: 26 · 2021: 35 · 2020: 29 · 2019: 28 · 2018: 28 · 2017: 52 · 2016: 43 · 2015: 53 · 2014: 48 · 2013: 69 · 2012: 82
- FWCI
- 44.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH64547, R01MH064547, R01MH076431)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- CNTNAP2, autism susceptibility, language development, neurexin, genetic linkage, genetic association, trios, brain gene expression, neurodevelopmental disorders
- MeSH terms
- Autistic Disorder, Brain, Child, Chromosomes, Human, Pair 7, Female, Humans, Language Development, Male, Membrane Proteins, Nerve Tissue Proteins, Gene Expression, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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