Neurofibromatosis by Christina P.

Neurofibromatosis is found on chromosome 17. It involves the NF1 gene which codes for the Neurofibromin protein that regulates the protein Ras (helps cell division). When the NF1 gene is mutated, the cells can't stop dividing which then forms tumors.

Neurofibromatosis is autosomal dominant and can be inherited in 2 different ways:

• inherited from a parent, the offspring has a 50% chance of being born with the disease
• new mutations in only some of the cells, but if the gene is mutated in the egg or sperm cell, then the parent will pass that gene down

Physical Signs and Symptoms:

• all physical signs differ depending on the person because each person's unique genetics influences their symptoms
• have cafA au lait spots (spots the color of coffee with cream) and freckles
• have a lot of neurofibromas (benign tumors)
• high blood pressure, bone defects, scoliosis, learning disabilities, Lisch nodules (benign growths on the eye), optic gliomas (benign tumors on optic nerve)

Diagnosis:

• can be diagnosed by looking at the physical symptoms
• if their is a family history of the mutated gene
• genetic tests on the NF1 gene

There is NO CURE, but surgery is an option for taking out tumors. If a tumor becomes cancerous, then chemotherapy and radiation are treatment options. Ethnicity nor gender are factors in deciding who will have the disease. One in 4,000 births in the U.S. contain the mutated gene which causes neurofibromatosis. An estimated 100,000 people in the U.S. have neurofibromatosis. Surprisingly though, people with neurofibromatosis have a normal life expectancy.