Neurofibromatosis is a disease where the cells called “ras” keep on diving and don’t stop and then turn into non-cancerous tumors on the body. The neurofibromin in the body regulates the “ras.” The tumors emerge on or just underneath the skin. It could be on the brain, eyes, or other large areas of the skin. The gene for neurofibromatosis is on chromosome 17.

Neurofibromatosis is inherited by the parent. Neurofibromatosis is inherited in an autosomal dominant pattern. Only one of the genes has to be passed on for the child to get the disease. There is a 50% chance of the child/children getting the disease. It is a bad thing that neurofibromatosis is such a frequent mutation. The gene for neurofibromatosis is extremely large. It makes it more likely to accrue mutations. Only one of the parents has to be affected for the child/children to get neurofibromatosis as well.

The symptoms for neurofibromatosis vary in high blood pressure, bone defects, and scoliosis (curving of the spine). Another symptom you might have from neurofibromatosis is learning disabilities from damage to the brain from the tumors. With neurofibromatosis you could also have a symptom of lisch (benign growths on the iris of the eye). You could have optic gliomas, which is benign tumors on the optic nerve that connects the eye to the brain.

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Most of the time, neurofibromatosis is diagnosed by its physical symptoms. Or it could be diagnosed by a family history of the disease. The tumors on the body usually appear within the first two years of a child’s life. They could also diagnose neurofibromatosis by sequencing a persons NF1 gene to identify the mutations. Genetic testing is usually not practical and it is very expensive. You should not need testing for neurofibromatosis because of the physical signs of having the disease.

There is no cure for neurofibromatosis. You could have surgery done to remove the tumors. You could also have surgery to correct the malformed bones in the body. In a very small percentage of people with neurofibromatosis the tumors could become cancerous. The cancerous tumors would have to be surgically removed. Then the person with the cancerous tumors must go through treatment with chemotherapy or/and radiation. These treatments are meant to kill the cancerous cells inside of the cancerous tumors.

Research teams located the exact position of the neurofibromatosis gene on chromosome 17. The product of the neurofibromatosis gene is a large and complex protein called neurofibromin. Neurofibromin is primarily active in nervous cells as a regulator of cell division. Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth.

Additional Facts:
One in every 4,000 people is affected by neurofibromatosis (1). One in every 50,000 people is affected by type 2 of neurofibromatosis. 100,000 people in the United States are affected by type 1 and 2 of neurofibromatosis. This disease is the most common genetic neurogical disease caused by a single gene. A large number of people who have neurofibromatosis have trouble learning. Neurofibromatosis occurs in all races, both sexes, and all ethnic groups. People who have neurofibromatosis live a normal life expectancy.

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