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

Cellular characterization of Caspr2  

Autism is characterized by a general inability to form social reciprocal interactions, severe impairment in verbal and non-verbal communication and a markedly restricted repertoire of activity and interests. According to recent epidemiological data, 1 child in 150 is affected with autism spectrum disorder (ASD), a considerable increase compared with estimates compiled 15-20 years ago. Emerging evidence indicate that rare variations in copy number and other functional variants within the CNTNAP2 gene, encoding Caspr2 protein, increase the risk for autism, epilepsy, or schizophrenia, making Caspr2 an extensively replicated autism-predisposition gene. No information is currently available on the molecular and cellular defects caused by any of these mutants. Investigation into the biochemical and cellular consequences of mutations in Caspr2, promises to give critical insights in the neuronal anomalies that give rise to aberrations in neuronal connectivity and provide a basis for designing therapeutic interventions. Project Status


Funder National Institutes of Health
Fiscal Year Funding $23,907.00
Current Award Period 2010-2011
Project Number 5P41RR004050-22
Principal Investigator Comoletti, Davide
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
Strategic Plan Objective 2O. Not specific to Question 2 objectives
Federal or Private? Federal
Institution University of California, San Diego
State/Country California
Web Link 1 Cellular characterization of Caspr2 (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A