HIVEP2

Below is a summary for the HIVEP2 gene observed in research publications. This is not meant to take the place of medical advice.

What is HIVEP2-related syndrome?

HIVEP2-related syndrome happens when there are changes to the HIVEP2 gene. These changes can keep the gene from working as it should.

Key Role

The HIVEP2 gene plays a key role in the growth of the brain.

Symptoms

Because the HIVEP2 gene is important in the growth of the brain, many people who have HIVEP2-related syndrome have:

  • Intellectual disability
  • Behavior issues
  • Low muscle tone

Do people who have HIVEP2-related syndrome look different?

People who have HIVEP2-related syndrome may look different. Appearance can vary and can include these features:

  • High forehead
  • Wide-set eyes
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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 HIVEP2.

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Presentations

Simons Searchlight Family & Research Conference 2020

HIVEP2 Virtual Conference

 

General Session 1

 

General Session 2

 

2019 Virtual Family Meeting

Presentation Includes:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Autism and Other Neurodevelopmental Features of HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A Session

 

2017 Virtual Family Meeting

Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Supporting Communication Skills for Individuals with HIVEP2” – Dr. Marissa Mitchel, M.S., CCC-SLP
  • “Medical Management of Neurodevelopmental Concerns in HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A session

 

2016 Virtual Family Meeting

Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Dealing with Challenging Behaviors” – Dr. Cora Taylor
  • Q&A Session

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Research Article Summaries

Below, we have summarized research articles about changes in the HIVEP2 gene. We hope you find this information helpful.

The information available about HIVEP2 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.

 

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

Original research article by H. Steinfield et al. (2016).

Read the article here and the Simons Searchlight summary here.

 

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Original research article by S. Srivastava et al. (2016).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HIVEP2 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

Stories from HIVEP2 families:

Click here to share your family’s story!