Alarcon, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M. H., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., Geschwind, D. H. (January 2008) Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Am J Hum Genet, 82 (1). pp. 150-159.
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Abstract
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[1] and [2] 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.
| Item Type: | Paper |
|---|---|
| Additional Information: | DOI 10.1016/j.ajhg.2007.09.005 |
| Subjects: | diseases & disorders > congenital hereditary genetic diseases diseases & disorders > mental disorders > personality disorders > autism organism description > animal > gender > male |
| CSHL Authors: | |
| Communities: | CSHL labs > Wigler lab CSHL labs > Sebat lab |
| Depositing User: | CSHL Librarian |
| Date: | January 2008 |
| Date Deposited: | 29 Aug 2011 20:49 |
| Last Modified: | 17 Nov 2016 16:52 |
| PMCID: | PMC2253955 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/15303 |
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