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

ACE Center: Rare variant genetics, contactin-related proteins and autism  

This grant provides support for an NIH Autism Center of Excellence (ACE). Recent genetic studies involving patients with autism spectrum disorder (ASD) and mental retardation revealed disruptions in the genes for the Contactin (CNTN) or Contactin Associated Protein (CNTNAP) families, including CNTN4, CNTNAP2, and CNTNAP4, which are neuronal adhesion and recognition molecules that play a role in axon pathfinding, muscle twitch, and neuronal-glial cell interactions in the brain. An increase in potentially damaging missense mutations has also been found among these proteins. Based on recent findings, the study will: 1) replicate the analysis that identified missense mutations in CNTNAP2 and perform a similar preliminary study in patients with developmental delay but not social disability; 2) perform studies of CNTN4 and CNTNAP4, the other molecules disrupted by chromosomal abnormalities, and 3) continue gene discovery efforts using both conventional and array-based cytogenetics, focusing on the identification of rare, deleterious changes in chromosome structure. Project Status


Funder National Institutes of Health
Fiscal Year Funding $334,236.00
Project Number 5P50MH081756-02
Principal Investigator State, Matthew
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective 3O. Not specific to Question 3 objectives
Federal or Private? Federal
Institution Yale University
State/Country Connecticut
Web Link 1 ACE Center: Rare variant genetics, contactin-related proteins and autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects ACE Center: Rare variant genetics, contactin-related proteins and autism | $334,470.00 | 2010 | 5P50MH081756-03