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How do people inherit NF2-SWN?

NF2-related schwannomatosis is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2-SWN gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2-SWN gene and occur in people with no history of the disorder in their family.

Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2-SWN gene must be altered to trigger tumor formation in NF2-related schwannomatosis. A mutation in the second copy of the NF2-SWN gene occurs in Schwann cells or other cells in the nervous system during a person’s lifetime. Almost everyone who is born with one NF2-SWN mutation acquires a second mutation in many cells and develops the tumors characteristic of NF2-related schwannomatosis.

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