16p11.2 Duplication

What does it mean to have a 16p11.2 duplication?

Genes provide our body’s instructions. Our body carries genes in structures called chromosomes. We have two copies of each chromosome, one from the birth father and one from the birth mother. Sometimes people are born with extra or missing sections of chromosomes. Extra or missing genetic material can impact health, learning, and behavior. The effects vary based on the location and size of the changes and what the genes there do.

People with 16p11.2 duplications have an extra section in one of their two chromosome 16s.

People with 16p11.2 duplications appear to have an increased risk for developmental problems, including autism. Depending on what genetic information is added, the addition can impact a person’s health, learning, and behavior.

The information available about 16p11.2 duplications is limited, and families and doctors share a critical need for more information. Simons Searchlight participants help doctors and scientists find new information about the effects of 16p11.2 duplications.

 

Learn more about 16p11.2 Duplications and connect with other Simons Searchlight families with the resources below:

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Genetic Information

What genes are involved in a typical 16p11.2 duplication?

 

The genes listed below are missing in a typical duplication. Some duplications may involve more genes than the ones listed here. Other duplications may include fewer. The information below is intended to give you an overview of how we think about genes and the resulting problems that can happen when a duplication causes there to be extra genetic information. If you have questions about your duplication, you can always ask your genetic counselor about the genes in your duplication.

  • 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 related to 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 duplications often do not have the disease but are carriers for it.
  • PPP4C – Important in fixing errors in DNA that develop over time.
  • YPEL3 – Important for copying DNA correctly.
  • MAPK3 – Important for sending visual messages from the eye to the brain.
  • CORO1A – Important in maintaining healthy immune system.

 

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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 Duplication Guidebook here.

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GeneReviews

Gene Reviews 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.

16p11.2 Duplication is mentioned in the GeneReviews below as a genetically related disorder.

Check out the GeneReview for 16p11.2 Deletions.

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Research Article Summaries

Below, we have summarized research articles about 16p11.2 Duplications. We hope you find this information helpful.

The information available about 16p11.2 Duplications 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.

 

Defining the effect of 16p11.2 duplication on cognition, behavior, and medical comorbidities

Original research article by Debra D’Angelo 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:

Bedoyan et al. (2010)

Describes in detail a child with a seizure disorder who also has a 16p11.2 duplication.

Fernandez et al. (2010)

Detailed description of three people with 16p11.2 duplications.

Rosenfeld et al. (2010)

Describes common features in 10 people with 16p11.2 duplications. Also indicates whether or not the duplications were inherited and what features were seen in parents who passed a duplication on to their child.

Schaaf et al. (2010)

Examines a possible link between 16p11.2 duplications and spinal cord cysts (syringomyelia).

Shinawi et al. (2010)

Discusses features commonly seen in 10 people with 16p11.2 duplications, as well as indicating whether the duplication was inherited from a parent.

McCarthy et al. (2009)

Summarizes the results of a study that found an increased risk for schizophrenia in people with 16p11.2 duplications. Also describes other features seen in these people.

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Facebook Group

Connect with other 16p11.2 Duplication families.

Join the group by clicking here!