16p11.2 Deletion

Below is a summary for the 16p11.2 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.

Click here for our full 16p11.2 Deletion Gene Guide

The online Gene Guide includes more information about 16p11.2 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 16p11.2 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 16p11.2 deletion syndrome?

16p11.2 deletion syndrome happens when a person is missing a piece of chromosome 16, 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.

Key Role

Genes within the 16p11.2 region are important for brain development and function.

Symptoms

Because the 16p11.2 region is important in brain activity, many people who have 16p11.2 deletion syndrome have: 

  • Developmental delay
  • Behavioral issues
  • Motor speech and language difficulties
  • Obesity
  • Autism or features of autism
  • Seizures
  • Motor coordination challenges

How many people have 16p11.2 deletion syndrome?

As of 2024, at least 230 people with 16p11.2 deletion syndrome have been identified in a medical clinic.

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Support Resources

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Info Summary

Download a short summary of the 16p11.2 copy number variant here.

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Guidebook

Download a copy of the Simons Searchlight 16p11.2 Deletion Guidebook here.

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Genetic Information

What genes are involved in a typical 16p11.2 deletion? The genes listed below are missing in a typical deletion. Some deletions may involve more genes than the ones listed here. Other deletions may include fewer. The information below is intended to give you a general overview of how we think about genes and the resulting problems that can happen when a gene is missing (because of a deletion). If you have specific questions about your deletion, you can always ask your genetic counselor about the genes in your deletion.

  • SPN – Important in immune function.
  • QPRT – Involved in some neurodegenerative conditions.
  • KIF22 – Important for copying DNA correctly.
  • MAZ – Important for copying DNA correctly.
  • PRRT2 – Important in early brain development.
  • MVP – May be involved in how the body metabolizes drugs, interacts with PTEN gene.
  • CDIPT – Important for delivering messages within and between cells.
  • KCTD13 – Important for copying DNA correctly; may be involved in muscle issues.
  • TAOK2 – Important for delivering messages within and between cells.
  • HIRIP3 – Important in chromatin remodeling, which prepares DNA to be used, read, or copied.
  • FAM57B – May be involved in creating fat cells.
  • ALDOA – Causes glycogen storage disease type XII. People with deletions often do not have the disease but are carriers for it.
  • PPP4C – Important for fixing DNA that develops errors over time.
  • TBX6 – May cause errors in some early cells that make skeletal muscle, and may be related to differences in the vertebrae.
  • YPEL3 – Important for copying DNA correctly.
  • MAPK3 – Important for sending visual messages from the eye to the brain.
  • CORO1A – Important in maintaining a healthy immune system.
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GeneReviews

GeneReviews are a great resources to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. Check out the GeneReviews for 16p11.2 Deletions.

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Research Article Summaries

Below, we have summarized research articles about 16p11.2 Deletion. We hope you find this information helpful. The information available about 16p11.2 Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 16p11.2 Deletion articles can be found here.

  • The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions Original research article by Andres Moreno-De-Luca, et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion Original research article by Di Tian et al. (2015). Read the abstract here and the Simons Searchlight summary here.
  • Opposing brain differences in 16p11.2 deletion and duplication carriers Original research article by A.Y. Qerishi et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude Original research article by J.J. LeBlanc and C.A. Nelson (2016). Read the abstract here and the Simons Searchlight summary here.
  • Additional research articles:
    • Hanson et al. (2014) Discusses 85 people with 16p11.2 deletion as compared with 153 individuals without the deletion. Researchers found that there was a higher frequency of psychiatric and developmental disorders in people with the 16p11.2 deletion.
    • Zufferey et al. (2012) Describes the largest study to date of people with 16p11.2 deletions. The study was a collaboration between the Simons Searchlight study and European research group.
    • Shen et al. (2011) Presents an example of the variety of features that can be seen with 16p11.2 deletions by describing two brothers and their father who have the deletion.
    • Rosenfeld et al. (2010) Suggests the variety of features that can be seen in people with 16p11.2 deletions. The study summarizes the features of 18 people with deletions and notes in 22 families whether or not the deletion was inherited.
    • Fernandez et al. (2010) Detailed descriptions of five people with 16p11.2 deletions.
    • Hanson et al. (2010) Describes the most common features in 21 people with 16p11.2 deletions. Also gives the results of a learning, behavior, and social interaction assessments of 11 people with deletions.
    • Sampson et al. (2010) Describes three people with 16p11.2 deletions and birth defects involving the kidney, the colon, or both.
    • Schaaf et al. (2010) Discusses a possible link between 16p11.2 deletions and spinal cord cysts (syringomyelia).
    • Shinawi et al. (2010) Summarizes the features of 17 people with 16p11.2 deletions. The most common features included speech delay, feeding problems, and behavior problems.
    • Walters et al. (2010) Summarizes the results of three studies that found a link between 16p11.2 deletions and obesity.
    • Bijlsma et al. (2009) Gives the overall features of 14 people with 16p11.2 deletions. Also tells, when known, whether or not the deletion was inherited.
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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about 16p11.2 Deletions by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from  16p11.2 deletion  families:

Click here to share your family’s story!

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