Neurofibromatosis Type 1: Involvement of NF1 Mutations in Nervous System Tumours and Learning and Cognitive Dysfunction in this Disorder

Neurofibromatosis type 1 (NF1) is a disorder caused by mutations in a single gene. These mutations result in neurological dysfunction including learning disabilities in children and cognitive impairment in adults. Individuals with NF1 often develop benign and sometimes malignant neoplasms of the brain and peripheral nerves. The underlying gene responsible for these defects is the NF1 gene, which is located on chromosome 17q11.2. The NF1 gene encodes a protein called neurofibromin. One known function of neurofibromin is to inhibit another gene called Ras from sending signals to other genes and proteins. Mutations of the NF1 gene disrupt neurofibromin function, impairing its ability to inhibit Ras. This lack of inhibition of Ras, which is equivalent to its aberran