ADNP

At least 22 ADNP gene mutations have been found to cause ADNP syndrome. This condition features intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interactions. Affected individuals can also have distinctive facial features and a wide variety of other signs and symptoms. Most ADNP gene mutations are thought to lead to the production of an abnormally short ADNP protein. Although it is unclear how these genetic changes cause ADNP syndrome, researchers speculate that the abnormally short protein can attach to DNA but cannot interact with SWI/SNF complexes. As a result, chromatin remodeling is impaired. Disturbance of this process alters the activity of many genes and disrupts the development or function of several of the body's tissues and organs, including the brain. These changes likely explain the intellectual disability, autism spectrum disorder, and other diverse signs and symptoms of ADNP syndrome.

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