Neurofibromatosis

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Risk Factors and Causes

Neurofibromatosis is an inherited disease caused by one of two genetic processes. In 50% of cases, a parent passes the defective NF gene (i.e., NF1 or NF2) to an offspring, resulting in autosomal dominant transmission. The NF1 and NF2 genes have tumor suppressor function. Rarely, neurofibromatosis is caused by deletion of the NF1 or NF2 gene.

In the other 50% of cases, a spontaneous genetic mutation occurs with no known cause, no hereditary link, and no family history of the disease.

Other disorders (e.g., epilepsy, scoliosis) also have been linked to NF.

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