Mutations in NF1 gene are responsible for Neurofibromatosis type I

NF1 gene, identified in 1987, is a tumor suppressor gene

Mutations occur all along NF1 gene, there is no hot spot

• Very diverse phenotype even within a sole family, i.e. bearing the same mutation
  • Almost no phenotype/genotype correlation
• 50% of the cases are de novo mutations
• NF1 gene encodes for a huge protein of 320 kDa, Neurofibromin, Nf1, whose was initially characterized as a Ras-GAP (GTPase Activating Protein)