NF1

Neurofibromatosis type 1 (also known as NF1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called Neurofibromin. This protein is needed for normal function in many human cell types. NF1 causes tumors along the nervous system which can grow anywhere on the body. NF1 is one of the most common genetic disorders and is not limited to any person's race or sex. NF1 is an autosomal dominant disorder, which means that mutation or deletion of one copy of the NF1 gene is sufficient for the development of NF1, although presentation varies widely and is often different even between affected individuals in the same family.

Signs and symptoms

The primary symptoms of NF1 are skin abnormalities and the presence of benign tumors along the nerves. Other symptoms can include learning disabilities, attention deficit disorder, vision disorders, and epilepsy. The severity and specific manifestations of NF1 can vary widely among affected individuals, even within the same family.

Genetics

NF1 is caused by a mutation in the NF1 gene, which is located on chromosome 17. The NF1 gene produces a protein called neurofibromin, which helps regulate cell growth. Mutations in the NF1 gene lead to a reduction in the amount of neurofibromin in cells, which can cause cells to grow and divide uncontrollably, leading to the formation of tumors.

Diagnosis

Diagnosis of NF1 is often based on clinical findings. Genetic testing can be used to identify mutations in the NF1 gene, but it is not always necessary for diagnosis.

Treatment

There is currently no cure for NF1. Treatment is symptomatic and may include surgery to remove tumors, medication to control pain, and physical therapy to manage complications of the disease.

See also

• Neurofibromatosis
• Neurofibromatosis type 2
• Genetic disorder
• Tumor

References

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