Molecular characteristics

The SUPT16H gene helps control how DNA is read and packaged inside cells, which is important for brain and body development. Changes in one copy of this gene, usually new (“de novo”) and not inherited, can disrupt normal gene activity. These changes include small spelling errors or protein-shortening mutations that reduce SUPT16H function. As a result, cells in the brain and nerves do not develop or communicate properly, leading to developmental delay and related symptoms.