Simons VIP Feature:

This short commentary presents a summary of research about children who were found to have ADNP mutations. Below is a short list of important take-home-messages.

The ADNP gene…

  • Plays an important role in brain development
  • May affect facial features. (Article quote: “People with ADNP mutations tend to have high hairlines, prominent foreheads, and thin upper lips.”)
  • Interacts with a group of genes called the “BAF complex”, another genetic region also being studied by Simons VIP Investigators
  • Is associated with features of autism, but not every child with an ADNP mutation will be formally diagnosed with autism. Most will show a few features.

While the effects of different variations in this gene have not yet been well-defined, we do have information about several children whose families have contributed information to research. “Among the 12 children—7 male and 5 female—described so far, all have developmental delay, ranging from mild to severe. Apart from autism, these children also seem to have overly flexible joints and low muscle tone, are prone to infections, and have vision and gastrointestinal problems.”

Because we have only learned from a small number of cases, it is important for us to study a larger number of children with changes in the ADNP gene. Simons VIP wants to collect this information so that we can learn exactly which features are associated with ADNP. This is why it’s important for families who have children with changes in ADNP to participate in Simons VIP. 

With contribution of information from more families, we can start answering questions like:

  • What percentage of children with an ADNP mutation have a diagnosis of autism?
  • What kinds of health problems are most common for these children? What are the least common?
  • How can we tailor education plans and therapies to make sure children with this gene change are getting what’s best for them?



Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunities.

  • ADNP Research Project Registry affiliated with Dr. Kooy and Dr. Eichler
    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.

  • TIGER Study: The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in ADNP.
    Click here to learn more about this opportunity

Research Article Summaries:
One article is summarized below. More information is needed to better understand the role of ADNP in the body so we can ultimately know what to expect for children who have changes in this gene.

  • Helsmoortel, et al., (2014). - A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
    A person’s DNA is continually remodeled and repackaged throughout life. Many genes are involved at different steps in the process. ADNP is one of those genes (working with a group of proteins called SWI/SNF). Genes involved in this remodeling and repackaging process (called "chromatin remodeling") has been an area of increasing interest for autism researchers.

    The authors estimate that a damaging variation (called a “mutation”) in ADNP occurs in at least 0.17% of ASD cases, which makes it one of the more common genes known to be associated with autism, at the time of this publication in April 2014. In 5,776 individuals with intellectual disability, whole exome sequencing was used to screen for a genetic cause of their intellectual diability. In this large group, ten individuals were found to have mutations in ADNP, one of whom was identified through the Simons Simplex Collection (SSC).

    en patients were described in this study. All ten had a diagnosis of autism, and had some degree of intellectual disability (ranging from mild to severe). Three children had congenital heart defects, two had seizures, and at least six children had vision problems (being far-sighted). It was also reported that several children had brain differences identified on MRI, behavior issues (some with ADHD), concerns with extremely flexible joints (called “hyperlaxity”), recurrent infections, feeding problems, and/or being shorter-than-average. Two patients also had insensitivity to pain and GI issues (like constipation). More research is needed in order to understand the features associated with mutations in the ADNP gene.

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: ADNP

Back to: Genetic Changes We're Studying