Despite years of research, no single gene has been clearly identified as the main cause of the cognitive features of the Williams-Beuren syndrome. This well-known neurodevelopmental disorder is characterized by a distinctive cognitive and behavioral profile. At the molecular level, it is caused by a small deletion of several genes on chromosome 7. One gene at this locus, GTF2I, has long been suspected to play a role in neurodevelopment. In our study, we report the first individuals affected by a neurodevelopmental disorder similar to the Williams-Beuren syndrome with genetic variations specifically affecting GTF2I. (By Jeanne Jury, https://jmg.bmj.com/content/early/2025/09/17/jmg-2024-110471 )