ADNP

Below is a summary for the ADNP gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is ADNP-related syndrome or Helsmoortel-Van der Aa Syndrome?

ADNP-related syndrome happens when there are changes to the ADNP gene. These changes can keep the gene from working as it should. The syndrome is also known as Helsmoortel-Van der Aa syndrome.

Key Role

The ADNP gene plays a key role in the brain and body, including the heart and intestines.

Symptoms

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

  • Developmental delay, or intellectual disability, or both
  • Speech and language delay
  • Autism or symptoms of autism
  • Other behavior issues
  • Distinctive facial features
  • Intestinal problems or difficulty eating
  • Heart problems
  • Vision problems
  • Sleep difficulties
  • Seizures

Do people who have ADNP-related syndrome look different?

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

  • Enlarged forehead and high hairline
  • Wide bridge of nose
  • Cup-shaped ears that stick out
  • Differences in the appearance of hands, including extra fingers, also called polydactyly

SPEECH

Almost everyone who has the syndrome has a speech delay. Children are often late to start talking and may have a limited vocabulary.

FEEDING and DIGESTION ISSUES

8 out of 12 people have difficulty eating. Eating difficulties are common. People may also have vomiting, constipation, and heartburn or reflux.

IMMUNE SYSTEM

7 out of 11 people have repeated infections. Almost two-thirds have repeated infections, including colds and urinary tract infections.

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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.

Check out the GeneReviews for ADNP.

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Research Article Summaries

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

The information available about ADNP 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‘s SFARI Gene website to see information for researchers about this gene.

 

ADNP – Brain development gene emerges as strong autism gene candidate

News article by Kate Yandell in the Simons Foundation’s online publication Spectrum.

Read the article here and the Simons Searchlight summary here.

 

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Original research article by Helsmoortel C., et al. (2014).

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 ADNP genetic changes by taking part in our research. You can learn more about the project and sign up here.

 

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in ADNP.

Click here to learn more about this opportunity.

 

ADNP Research Project

Registry affiliated with Dr. Kooy and Dr. Eichler

Find more information about this registry here. For specific information about features seen in 12 patients with ADNP gene changes, click on “Clinical Features” on the main page. This summary of information is particularly helpful for families, researchers, and clinicians.

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Family Stories

Stories from ADNP families:

Click here to share your family’s story!