Original SFARI Article by: Kate Yandell (October 2, 2014)

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?

Want to learn more about ADNP? See the VIP summary of this gene.