AHDC1

Below is a summary for the AHDC1 gene observed in research publications. This is not meant to take the place of medical advice.

What is AHDC1 syndrome?

AHDC1-related syndrome happens when there are changes to the AHDC1 gene. These changes can keep the gene from working as it should. AHDC1-related syndrome is also known as Xia-Gibbs syndrome.

Key Role

The AHDC1 gene plays a key role in the growth of the brain.

Symptoms

Because the AHDC1 gene is important in the development and function of brain cells, many people who have AHDC1-related syndrome have:

  • Developmental delay
  • Speech delay
  • Sleep apnea, a disorder in which breathing stops and starts
  • Seizures

Do people who have AHDC1-related syndrome look different?

People who have AHDC1-related syndrome can look different. Appearance can vary and can include some but not all of these features:

  • Broad forehead
  • Widely spaced eyes
  • Flat bridge of nose
  • Thin upper lip
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Support Resources

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Research Article Summaries

Below, we’ve summarized research articles about changes in the AHDC1 gene. We hope you find this information helpful.

The information available about AHDC1 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.

You can also visit the Simons Foundation’SFARI Gene website to see information for researchers about this gene.

 

De novo truncating mutations in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Original research report by H. Yang et al. (2015).

Read the report here. Read the Simons Searchlight summary here.

 

De novo truncating mutations in AHDC1 in people with syndromic expressive language delay, hypotonia, and sleep apnea

Original research report by F. Xia et al. (2014.)

Read the report here. Read the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about AHDC1 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 AHDC1 families:

Click here to share your family’s story!