NRXN1
Below is a summary for NRXN1-related disorder or 2p16.3 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
Click here for our full NRXN1 Gene Guide
The online Gene Guide includes more information about NRXN1 such as the chance of having another child with this condition, behavior and development concerns linked to NRXN1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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What is NRXN1-related disorder or 2p16.3 deletion syndrome?
NRXN1-related syndrome happens when a small section of the NRXN1 gene is missing. This change can keep the gene from working as it should.
NRXN1-related disorder is also called 2p16.3 deletion syndrome. Both conditions are caused by a deletion in the NRXN1 gene, which is missing when a person has a 2p16.3 deletion. A person has 2p16.3 deletion syndrome or NRXN1-related disorder when there is one non-working or missing NRXN1 gene.
There is a different condition named Pitt Hopkins-like syndrome 2, which occurs when a person has two NRXN1 genes that are not working or missing.
Key Role
The NRXN1 gene plays a key role in the development of communication skills, social skills, and learning skills
Symptoms
Because the NRXN1 gene is important in brain activity, many people who have NRXN1-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Speech and language delay
- Autism spectrum disorder or features of autism
- Other behavior issues, such as attention deficit hyperactivity disorder, also called ADHD
How many people have NRXN1-related disorder?
As of 2024, at least 199 people with NRXN1-related syndrome have been identified in a medical clinic. The first case of NRXN1-related disorder was described in 2008.
Support Resources
- Simons Searchlight Community – NRXN1 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – NRXN1
- Unique – 2p16.3 Deletion (NRXN1) Guidebook
- NRXN1 Network
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There are currently no GeneReviews for NRXN1 .
Research Article Summaries
We currently do not have any article summaries for NRXN1, but we add resources to our website as they become available.
The information available about NRXN1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
- Schaaf CP. et al. European Journal of Human Genetics, 20, 1240-1247, (2012). Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions, www.ncbi.nlm.nih.gov/pubmed/22617343.
- Dabell MP. et al. American Journal of Medical Genetics Part A, 161A, 717-731, (2013). Investigation of NRXN1 deletions: clinical and molecular characterization, www.ncbi.nlm.nih.gov/pubmed/23495017.
- Lowther C. et al. Genetics in Medicine, 19, 53-61, (2017). Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression, www.ncbi.nlm.nih.gov/pubmed/27195815.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for NRXN1 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about NRXN1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
NRXN1 Research Team at Murdoch Children’s Research Institute
This team is conducting a new study on the NRXN1 community. They are running a project looking at mental health outcomes in individuals and their families with NRXN1 deletions. By improving our understanding of mental health in these individuals and their families, we hope to improve prognoses, better identify those in need of support and develop more targeted therapies. Contact them.
UPenn ASPE Program
Researchers from the Autism Spectrum Program of Excellence at the University of Pennsylvania are conducting a study of mutations in the NRXN1 gene. You can find out more information from their brochure or by visiting their website.
Family Stories
We do not currently have any stories from NRXN1 families.
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