Which genetic mutation is commonly associated with Schwannomatosis?

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The genetic mutation commonly associated with Schwannomatosis is the SMARCB1 gene mutation. Schwannomatosis is a rare genetic disorder characterized by the development of multiple schwannomas, which are tumors that arise from Schwann cells in the peripheral nervous system.

Recent studies have shown that alterations in the SMARCB1 gene, which is involved in the regulation of gene expression and cellular processes, can lead to the development of these tumors. While some cases of Schwannomatosis may also involve mutations in other genes associated with neurofibromatosis type 2 (NF2), the primary association in current research points to SMARCB1 as a significant contributor to this condition.

The other genes listed do not have a well-established link to Schwannomatosis. For instance, mutations in the APP gene are primarily associated with Alzheimer's disease, C9orf72 is most commonly linked to amyotrophic lateral sclerosis and frontotemporal dementia, and KCNJ2 mutations are related to various cardiac and neurological syndromes, none of which are specifically connected to Schwannomatosis. Thus, the association of SMARCB1 with Schwannomatosis makes it the correct answer in this context.

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