2p16.3 Deletion

Below is a summary for 2p16.3 deletion syndrome or NRXN1-related disorder observed in research publications. This is not meant to take the place of medical advice.

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. 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. 

Symptoms

Because the 2p16.3 region is important for the proper function of the body’s cells, some people may 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

Do people who have 2p16.3 deletion syndrome look different?

People who have 2p16.3 deletion syndrome generally do not look different.

How many people have 2p16.3 deletion syndrome?

As of 2021, at least 12 people with 2p16.3 deletion syndrome have been described in medical research.

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Support Resources

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from 2p16.3 Deletion families.

Click here to share your family’s story!