What is fn1 disease?
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms.
What gene causes neurofibromatosis?
Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis: NF1 . The NF1 gene is located on chromosome 17.
How does NF1 act as a tumour suppressor?
NF1 encodes neurofibromin 1 protein, which negatively regulates the RAS/MAPK pathway by converting active RAS-GTP to inactive RAS-GDP. Neurofibromin 1 also functions in the PI3K/mTOR and cAMP signaling. Somatic mutations in NF1 are common in cancer, including melanoma.
Where is Neurofibromin located?
Neurofibromin, a GTPase-activating protein, primarily regulates the protein Ras. NF1 is located on the long arm of chromosome 17, position q11. 2 NF1 spans over 350-kb of genomic DNA and contains 62 exons.
What is the life expectancy of someone with NF1?
If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.
Do neurofibromas grow back?
When removed completely, it is possible that they do not grow back. These types of tumors are often not serious. However, sometimes they press against nerves, blood vessels or other neighboring structures which cause pain or other symptoms. A malignant tumor is a cancerous type of growth.
Do café-au-lait spots always mean neurofibromatosis?
Indeed, anyone can have 1 or 2 cafe-au-lait spots without having neurofibromatosis. The only significance to the cafe-au-lait spot is that it suggests the possibility that a person might have NF1. People with NF1 usually have many cafe-au-lait spots, sometimes hundreds, and almost always more than 6.
Is NF1 a TSG?
NF1 is a TSG and, consistent with Knudson’s two-hit hypothesis, most patients carry (in all their cells) both a normal and a dysfunctional NF1 gene copy — the latter harbouring the inherited (germline) mutation.
Where is the NF2 gene?
Neurofibromatosis type 2 (NF2) is a genetic disorder that involves changes in the NF2 gene. This particular gene helps in the production of merlin (also called schwannomin), a protein that stops tumors from forming. The gene is located on chromosome 22.