NF Genes, short for Neurofibromatosis Genes, refers to a group of genes implicated in the development of neurofibromatosis, a genetic disorder characterized by the growth of benign tumors in the nervous system. Neurofibromatosis is classified into two main types: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) – both of which are caused by mutations in different genes.
NF1, the more common form, is caused by mutations in the NF1 gene. This gene is responsible for producing a protein called neurofibromin, which functions as a tumor suppressor. When the NF1 gene is mutated, it leads to reduced or absent production of neurofibromin, allowing uncontrolled cell growth and the formation of tumors. Neurofibromas, café-au-lait spots, and learning disabilities are among the characteristic features associated with NF1.
NF2, on the other hand, is caused by mutations in the NF2 gene. This gene encodes a protein called merlin or schwannomin, which plays a role in the regulation of cell proliferation and growth within the nervous system. Mutations in the NF2 gene result in the loss of merlin, leading to the formation of bilateral vestibular schwannomas (tumors of the nerves responsible for balance and hearing) and other nervous system-related tumors.
Understanding the role and function of NF genes is crucial in diagnosing and managing neurofibromatosis, as they serve as genetic markers for the condition. Genetic testing for mutations in NF genes can aid in confirming diagnosis, predicting disease severity, and providing genetic counseling for individuals and families affected by neurofibromatosis.
