CHAMP1

Below is a summary for the CHAMP1 gene observed in research publications. This is not meant to take the place of medical advice.

What is CHAMP1-related syndrome?

CHAMP1-related syndrome happens when there are changes to the CHAMP1 gene. These changes can keep the gene from working as it should.

Key Role

The CHAMP1 gene plays a key role in the growth of brain cells.

Symptoms

Because the CHAMP1 gene is important in the growth and function of brain cells, many people who have CHAMP1-related syndrome have:

  • Intellectual disability
  • Speech impairments
  • Small head, also called microcephaly
  • Low muscle tone

Do people who have CHAMP1-related syndrome look different?

People who have CHAMP1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Open mouth
  • Thin upper lip
  • Low muscle tone in the face
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Support Resources

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Presentations

CHAMP1 2019 Virtual Family Meeting

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Research Article Summaries

Below, we have summarized research articles about changes in the CHAMP1 gene. We hope you find this information helpful.

The information available about CHAMP1 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.

 

De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability

Original research article by B. Isidor et al. (2016).

Read the abstract here and read the Simons Searchlight summary here.

 

De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment

Original research article by M. Hempel et al. (2015).

Read the article here and read the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CHAMP1 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 CHAMP1 families:

Click here to share your family’s story!