The National Institute of Neurological Disorders and Stroke (NINDS) defines neurofibromatosis as a group of “genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues.” Neurofibromatosis is an autosomal dominant disorder, meaning that a child has a 50 percent chance of developing the disorder if one parent has it. Besides inheriting the neurofibromatosis gene, a patient can also have a genetic mutation that results in the disorder, and then pass it down through her children. Two types of neurofibromatosis exist—neurofibromatosis type one (NF1) and neurofibromatosis type two (NF2)—which affect different genes.
NF1 is the most common type of neurofibromatosis, affecting one in every 3,000 to 4,000 people in the world, according to the Genetics Home Reference. This type of neurofibromatosis is caused by a mutation of the NF1 gene, which is responsible for making the neurofibromin protein. Neurofibromin produces supporting cells, like oligodendrocytes and Schwann cells, and also acts as a tumor suppressant. Since the mutation to the NF1 gene interferes in the mechanism of neurofibromin, the patient develops a type of tumor called a neurofibroma, a benign tumor the grows either on the skin or below it.
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