CIC haploinsufficiency syndrome is caused by mutations in one of two copies of the CIC gene that does not allow it to work properly. The CIC gene encodes a transcription factor, a protein that functions to bind to DNA to control the levels of other genes. When CIC does not function properly it can lead to improper development of the brain which presents in patients as developmental delay, autism, seizures, and attention deficit hyperactivity disorder (ADHD).
CIC