What is NEUROFIBROMATOSIS type 1 and type 2

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Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are genetic disorders that belong to a group known as neurocutaneous disorders. These conditions cause tumors to form on nerve tissue throughout the body, including the brain, spinal cord, and peripheral nerves .

Here are some key points about NF1 and NF2:

1. Autosomal Dominant Inheritance:

   • Both NF1 and NF2 are inherited as autosomal dominant genetic syndromes.
   • Autosomal dominant means that one copy of the altered gene is sufficient for phenotypic expression (meaning the manifestation of the disorder).
   • Individuals with an affected parent have a 50% chance of inheriting the altered gene.

2. Mutational Changes:

   • Autosomal dominant syndromes often result from de novo mutations (mutations occurring for the first time) in germ cells.
   • These mutations lead to abnormal gene products that play a crucial role in the dysregulation of tumor suppression.

3. Clinical Differences:

   • NF1 is typically diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.
   • NF1 and NF2 differ in terms of their age of clinical onset, clinical manifestations, gene loci, and gene protein products.

4. Gene Mutations:

   • NF1 is caused by mutations in the NF1 gene.
   • NF2 results from mutations in the NF2 gene.
   • These genes may be inherited from affected parents or arise from spontaneous mutations in germ cells .

In summary, both NF1 and NF2 involve altered gene products that disrupt normal tumor suppression mechanisms, leading to the formation of tumors in nerve tissues. Understanding the genetics of these conditions is crucial for diagnosis and management.