2p16.3 Deletion

The information for this summary of 2p16.3 deletionsyndromeor NRXN1-related disorder observed in research publications. This is not meant to take the place of medical advice.

Click here for our 2p16.3 Deletion Gene Guide

The online Gene Guide includes more information about 2p16.3 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 2p16.3 deletion 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 2p16.3 deletion syndrome or NRXN1-related disorder?

2p16.3 deletion syndrome happens when a person is missing a piece of chromosome 2, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.

2p16.3 deletion syndrome is also called NRXN1-related disorder. Both conditions are caused by a deletion in the NRXN1 gene, which is missing when a person has a 2p16.3 deletion. In 2p16.3 deletion syndrome or NRXN1-related disorder, there is one non-working or missing copy of the NRXN1 gene.

There is a different condition named Pitt Hopkins-like syndrome 2, which happens when a person has two NRXN1 genes that are either not working or missing.

Key Role

The 2p16.3 region plays a key role in the development of communication skills, social skills, and learning skills.

Symptoms

Because the 2p16.3 region is important in brain activity, many people who have 2p16.3 deletion syndrome have:

Developmental delay
Intellectual disability
Speech and language delay
Autism
Other behavior issues, such as attention-deficit/hyperactivity disorder, also called ADHD
Low muscle tone
Breathing issues
Constipation
Schizophrenia

How many people have 2p16.3 deletion syndrome?

As of 2024, at least 186 people with 2p16.3 deletion syndrome have been identified in a medical clinic.

Support Resources

Simons Searchlight Community – 2p16.3 Deletion Facebook group
Unique – 2p16.3 Deletion 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 is currently no GeneReviews for 2p16.3 Deletion.

Research Article Summaries

We currently do not have any article summaries for 2p16.3 Deletion, but we add resources to our website as they become available.

The information available about 2p16.3 Deletion 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.

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 2p16.3 Deletion 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 2p16.3 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.