Genetics of neurofibromatosis type 1 (NF1)

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Neurofibromatosis Type 1 (NF1) occurs because of a mutation to the NF1 gene. About half of cases are spontaneous mutations, while the other half are inherited from a parent to a child.

Key points

  • A person can get NF1 in one of two ways. Half of cases happen completely by chance. The rest of the time, NF1 is inherited or passed down from parent to child.
  • In some cases, the signs or symptoms of NF1 are so mild that a parent may not find out they have NF1 until a child is diagnosed.
  • A person with NF1 has a 50% (one in two) chance to have an affected child with each pregnancy.
  • Adults may benefit from genetic counselling to understand their risks and choices regarding planning and family.
Last updated: March 5th 2010