Neurexin Research

A major focus at the Autism Spectrum Program of Excellence is on the NRXN1 gene (2p16.3 deletion), which has been associated with autism and other psychiatric and neurodevelopmental disorders. 

The NRXN1 gene codes for the neurexin 1 protein, which is located at synapses in the brain. Synapses are the connection points between neurons, and neurexin 1 is important for these connections to form and function properly. NRXN1, located on chromosome 2, is one of three similar genes (including NRXN2 and NRXN3) in the human genome that all code similar neurexin proteins that function at synapses. 

Scientists already know that deletions of the region of chromosome 2 where NRXN1 is located, termed 2p16.3 deletions, are associated with autism and a number of other neuropsychiatric disorders and conditions. However, these deletions can also be found in unaffected individuals. While it is known that neurexin 1 is important for synapse function, how neurexin 1 contributes to autism or other disorders and conditions is not well understood. One of the major goals of the University of Pennsylvania ASPE Program is to clarify the ways that different variants of the NRXN1 gene affect the brain and autism.  

To reach that goal, the ASPE Program is recruiting all individuals with a NRXN1 variant or 2p16.3 copy number variant (e.g. deletion). This includes those with and without an autism diagnosis and individuals both with and without intellectual disability. We welcome all inquiries regarding research eligibility.  

Additionally, the University of Pennsylvania ASPE Program is recruiting individuals with autism without intellectual disability. For more information on our autism research, see our autism research page. 

Recruitment Summary: ASPE is recruiting individuals with an autism diagnosis and/or NRXN1 deletion, their family members, and any person without an autism diagnosis in the community. Click here for more information on ASPE Study eligibility.