Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism  

Four independent studies have uncovered different autism-associated variants in the gene contactin­associated protein-like 2 (CNTNAP2), making this gene the first to have multiple variants associated with autism. The striking pervasiveness and diversity of the variants suggest that CNTNAP2 plays a crucial role in autism, leading Aravinda Chakravarti and his colleagues to embark on a detailed study of the gene. CNTNAP2 encodes a cell adhesion protein that regulates signaling between neurons at the synapse. It is highly expressed in neurons that control language and language development, difficulties with which are a hallmark of autism. Disrupting the gene's activity may impair synapse formation in these neurons, thereby affecting language ability. Chakravarti's approach is to gather DNA samples from a large group of people with autism who share similar abilities and disabilities, such as the age at which they spoke their first word. This pre-selection makes the data set more precisely tuned to uncover genes related to traits of the same intensity and improves the chance of finding variants by statistical analysis. CNTNAP2 is a large gene comprising more than 3 million base pairs. Chakravarti's team has searched for new associations and small structural variants in this gene, using families from both the National Institute for Mental Health's consortium and the Simons Simplex Collection. The researchers found one variant that shows consistent association in both data sets. Chakravarti and collaborator Mark Daly of Harvard Medical School have identified common variants of the SEMA5A gene that are potential risk factors for autism. They are conducting a meta-analysis of all available genome-scan data to uncover novel genes linked to autism. More recently, they have sequenced certain coding regions of the human genome in severely affected individuals, and have identified multiple mutations in the CTNND2 (delta-catenin) gene that are associated with autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $464,600.68
Current Award Period 2008-2011
Project Number SFARI-07-07
Principal Investigator Chakravarti, Aravinda
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution Johns Hopkins University School of Medicine
State/Country Maryland
Web Link 1 The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism | $464,600.68 | 2008 | Project number unavailable
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | $464,600.68 | 2009 | SFARI-07-07