What Is Neurofibromatosis?
2. Causes
Neurofibromatosis is a type of genetic disorder. The issue occurs either at the point of conception, or a defective gene is passed on from one of the patient’s parents. There are different types of neurofibromatosis, and the type the patient has will depend on which specific gene is defective.
One type of neurofibromatosis is neurofibromatosis 1. This is a condition where there is an issue with chromosome 17, which is responsible for a protein known as neurofibromin. There is also neurofibromatosis 2, which is a problem with chromosome 22, which helps produce a protein known as schwannomin. The third type is known as Schwannomatosis. Two genes are thought to be responsible for this type, which are LZTR1 and SMARCB1.
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