Neurofibromatosis Type 1
- Causes and Risk Factors
What causes NF1?
NF1 is caused by a fault (i.e., mutation) in the
NF1 gene. Genes are instructions for cells to make proteins in the body. The NF1 gene is a tumour suppressor gene which normally produces a protein that blocks the development of tumours and cancer. When faulty, it leads to a diagnosis of NF1 and an increased risk of tumours/cancer.
You can undergo genetic testing to understand if you have a faulty
NF1 gene. As genes are shared among family, if you have a faulty
NF1 gene, it may indicate that other family members may have inherited the faulty gene too and may also be at increased risk of tumours/cancer.
How is NF1 inherited?
NF1 follows a
dominant inheritance pattern. This means that having one faulty copy can cause features of NF1.
About half of all people with NF1 have inherited the faulty gene from a parent. The other half have it because of a new and spontaneous change (mutation) in their gene.
Everyone has 2 copies of each gene in their body’s cells:
- 1 copy comes from our father
- 1 copy comes from our mother
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- A parent with a faulty gene(s) has a 50% chance of passing down their faulty gene(s) to their children.
- A child, sibling or parent of a family member with a faulty gene(s) has a 50% chance of also inheriting the same faulty gene(s).
- Extended relatives may also inherit the faulty gene(s).
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