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.

The article discusses research about children who were found to have changes in the ADNP gene. The main take-home messages are as follows.

The ADNP gene:

  • Plays an important role in brain development
  • May affect facial features. (From the article: “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, which is also being studied by Simons Searchlight investigators.
  • Is associated with features of autism. But not every child with a change in ADNP 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 our researchers to study a larger number of children with changes in the ADNP gene. Simons Searchlight wants to collect this information to better understand what features are associated with changes in the ADNP gene. This is why it’s important for families who have children with changes in ADNP to participate in Simons Searchlight.

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

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