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.
Can people with NF1 live a normal life?
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.
What gene is associated with neurofibromatosis?
The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. NF2 .
Can NF1 cause death?
Our analysis of mortality in NF1 has again shown a reduction in life expectancy, but we found 50% of NF1 affected individuals can expect to live beyond 71 years of age. The main causes of early death were MPNST and glioma, as expected from previous investigation.
Is NF1 painful?
Sporadic neurofibromas typically grow on the skin. People with NF1 are predisposed to developing multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some may itch or be painful.
What causes neurofibromatosis type 1?
Neurofibromatosis type 1 is caused by changes in a gene known as NF1. Genes carry information telling cells within the body how to function. The NF1 gene helps to control how and when cells grow, divide and die.
Is neurofibromatosis dominant?
Neurofibromatosis is inherited in an autosomal dominant manner. [1] This means that to be affected, a person only needs a change ( mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new ( de novo) mutations in the gene.
