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Discover SPARK

ADNP

Characteristics and clinical features:

People with mutations in ADNP often have autism, developmental delay and certain facial characteristics, including a thin upper lip and broad nasal bridge. They may also have flexible joints, low muscle tone and vision and gastrointestinal problems. Scientists estimate that ADNP mutations account for 0.17 percent of genetic autism cases. Though that figure may sound low, ADNP is one of the most common known autism-linked genes. For an in-depth description of the ADNP mutation, visit ADNPkids.com, a family website. As of January 2017, the ADNPkids project had identified 92 confirmed ADNP cases.

Biology:

ADNP resides on chromosome 20. The gene helps regulate how DNA is packaged and is important for the growth and development of neurons. ADNP is a target of CHD8, another autism-linked gene. Most ADNP mutations are de novo, meaning that the individual’s parents do not carry the mutation.

History:

ADNP was first linked to autism in 2012. But researchers in Israel have been studying the gene for nearly two decades for its potential link to Alzheimer’s disease.

Additional resources:

News stories from Spectrum:

Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.