The DOI matches its Crossref record; 65 of the 67 references it cites were found in a registry or an index.
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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In the citing paper
“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]
Experimental — accuracy not yet measuredIn the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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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Cites
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,551
Smyth, G. K. (2004) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1027 · Cited by 11,829
Exploration, normalization, and summaries of high density oligonucleotide array probe level data
Irizarry, R. A. (2003) · Biostatistics · doi:10.1093/biostatistics/4.2.249 · Cited by 10,603
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Self-citationLarge-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Self-citationLinkage disequilibrium in finite populations
Hill, W. G., & Robertson, A. (1968) · Theoretical and Applied Genetics · doi:10.1007/bf01245622 · Cited by 2,035
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
Genetic data analysis II: methods for discrete population genetic data
(1996) · Choice Reviews Online · doi:10.5860/choice.34-2150 · Cited by 1,626
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Age dependent impairment of home cage behavior and reactivity in Cntnap2 knock out mouse modelPreprint
Sheridan, M., Rice, M. F., Mahadeshwar, R., Kanamarlapudi, A., Groß, C., & Tiwari, D. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.20.700626
Mann, R. S., Pineda, H. C., & Schmid, S. (2026) · Neuroscience · doi:10.1016/j.neuroscience.2026.02.029
Blondet, C., Roy, A. C., Farnè, A., & Gomez, A. (2026) · Journal of Neural Transmission · doi:10.1007/s00702-026-03112-4
Etudes des variations structurales chromosomiques dans l'autisme et la déficience mentale
Marouillat, S. (2011) · theses.fr (ABES) · doi:10.70675/61c503abz73b9z4e2eza417z1c6d98894a3b
Pinatel, D. (2015) · theses.fr (ABES) · doi:10.70675/c1997924z1c4bz4f2cz9846z5009e029e1c0
Saitovitch, A. (2014) · theses.fr (ABES) · doi:10.70675/ddd5f246z0fe4z4134z8a28z27d0a24aed40
Sáfár, K., Szendi, V., Hoppa, P., Wang, Y., Seres, F. Á., Bartok, S., Teadora, T., Shi, L., Dobolyi, Á., Puska, G., et al. (2026) · Autism Research · doi:10.1002/aur.70286
Shipra, Singh, H., Singh, V., Rai, E., & Sharma, S. (2026) · Human Gene · doi:10.1016/j.humgen.2026.201581
Pineda, H. P., & Schmid, S. (2026) · Journal of Integrative Neuroscience · doi:10.31083/jin52072
Animal models of autism spectrum disorder: Bridging biology to behaviour
Olondo, P. M., & d’Exaerde, A. D. K. (2026) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.70465
Dhungel, A., Bora, R., Chamidah, A. N., & Menge, D. M. (2026) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2026.104127
Searching for molecular mechanisms of psychiatric diseases: examples from autism to rapid cycling
Gurvich, A. (2014) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-4634
Metadata
- 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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