GTF2IRD1

Williams syndrome

The GTF2IRD1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. As a result of the deletion, people with Williams syndrome are missing one copy of the GTF2IRD1 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the distinctive facial features, personality characteristics such as sociability, and problems with visual-spatial tasks such as writing and drawing. Researchers are investigating how a deletion of this gene may be related to these specific features.