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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

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

Principal Investigator

Principal Investigator

Chakravarti, Aravinda

Description

Description

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.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

464601

Current Award Period

Current Award Period

2008-2011

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

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.

Project Link

Project Link

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

Institution

Institution

Johns Hopkins University School of Medicine

State/Country

State/Country

Maryland

Project Number

Project Number

SFARI-07-07

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism | 464601 | 2008 | Project number unavailable
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | 464601 | 2009 | SFARI-07-07
The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism | 116150 | 2011 | SFARI-07-07

 
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