Neurofibromatosis 1

Neurofibromatosis 1 is an autosomal dominant disorder that affects about one subject out of 4000. NF1 gene localized in 17q11.2 is of about 335 kilobases and encodes a 2818 amino-acid protein, neurofibromin. It is a tumor-suppressor gene. Mutations have been identified along the whole gene without hotspots. In the same family in which all subjects have inherited of the same NF1 mutation, patients have different phenotypes, from benign to severe. Main complications of neurofibromatosis 1 are tumors that cause morbidity and mortality: plexiform neurofibromas, malignant peripheral nerve sheath tumors, central nervous system tumors. Inactivation of NF1 in tumor cells seems to be associated with a hyperactive Ras. This opens new therapeutic prospects.