NF1 mutations

NF1 mutations are changes in the NF1 gene, which provides instructions for making a protein called neurofibromin. Neurofibromin helps control cell growth and division. When mutations occur, they can lead to a loss or reduction of neurofibromin's function, causing cells to grow too quickly and forming tumors along nerves, known as neurofibromas. This condition, called Neurofibromatosis type 1, can also cause skin spots, freckles, and other symptoms. NF1 mutations are usually inherited but can also occur spontaneously. The severity of symptoms varies among individuals.