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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is NRXN1-related disorder or 2p16.3 deletion syndrome?

NRXN1-related disorder happens when a small section of the NRXN1 gene is missing. This change can keep the gene from working as it should. Even a tiny piece of missing DNA can affect how the gene works.

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 for development, many people who have NRXN1-related disorder 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

Do people who have NRXN1-related disorder look different?

People who have NRXN1-related disorder generally do not look different.

How many people have NRXN1-related disorder?

As of 2018, doctors had found about 100 people in the world with changes in the NRXN1 gene. The first case of NRXN1-related disorder was described in 2008. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learning

Most people who have NRXN1-related disorder have some degree of intellectual disability. A study of 15 people who have the syndrome found that more than 90 percent had an intellectual disability.

Speech

Most people who have NRXN1-related disorder have problems with communication. A study of 12 people found that 75 percent had language difficulties.

Behavior

People who have NRXN1-related disorder can have autism or features of autism. A study of 17 people found that about 70 percent had autism or features of autism and about 40 percent had ADHD.

Support Resources

Simons Searchlight Community – NRXN1 Facebook group
Geisinger Developmental Brain Disorder Gene Database – NRXN1
Unique – 2p16.3 Deletion (NRXN1) Guidebook

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.

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.

Click here to share your family’s story!