GTF2I

The GTF2I gene is located in a region of chromosome 7 that is duplicated in people with 7q11.23 duplication syndrome. As a result of this duplication, people with 7q11.23 duplication syndrome have an extra copy of the GTF2I gene and several other genes in each cell. 7q11.23 duplication syndrome can cause a variety of neurological and behavioral problems as well as other abnormalities.

Behavioral problems associated with 7q11.23 duplication syndrome include anxiety disorders (such as social phobias and selective mutism, which is an inability to speak in certain circumstances), attention-deficit/hyperactivity disorder (ADHD), physical aggression, excessively defiant behavior (oppositional disorder), and autistic behaviors that affect communication and social interaction. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of 7q11.23 duplication syndrome, but the mechanism of this effect is unclear. Affected individuals do not appear to have immune abnormalities related to this disorder.

The GTF2I gene is located in a region of chromosome 7 that is missing (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 GTF2I gene in each cell. 

Studies suggest that the loss of this gene is partly responsible for intellectual disability in people with Williams syndrome.  Loss of this gene may also contribute to behavioral differences, such as increased sociability and anxiety-related behaviors, that are seen in this disorder. Studies show that some affected individuals have less myelin than normal in some parts of their brains, and researchers suspect reduced myelination may contribute to the behavioral features. Researchers are investigating how changes in this gene may be related to these and other specific features of Williams syndrome. People with Williams syndrome do not appear to have immune abnormalities related to the condition.