NF2-Related Schwannomatosis

NF2-Related Schwannomatosis (formerly called Neurofibromatosis Type 2 or NF2) is an inherited tumor predisposition syndrome characterized by the development of schwannomas (tumors of the nerve sheath cells) and other nervous system tumors. The hallmark feature is bilateral vestibular schwannomas—benign tumors affecting the nerves for hearing and balance, which eventually cause deafness if untreated.

Symptoms typically begin in the late teens or early twenties and include gradual hearing loss, tinnitus (ringing in the ears), and balance problems from the vestibular schwannomas. As tumors grow, they can compress the brainstem and cause additional neurological problems. Other common tumors include meningiomas (tumors of the brain lining), spinal schwannomas, and ependymomas.

The condition also causes cataracts (often the earliest sign, appearing in childhood or adolescence), skin tumors, and peripheral neuropathy. Spinal tumors can cause weakness, numbness, or pain depending on their location. Unlike neurofibromatosis type 1, café-au-lait spots and neurofibromas are rare in NF2.

NF2-related schwannomatosis is caused by mutations in the NF2 gene, which encodes a tumor suppressor protein called merlin (or schwannomin). The condition is inherited in an autosomal dominant pattern, though about 50% of cases arise from new mutations. Management involves regular MRI surveillance and surgical or radiation treatment of tumors that cause symptoms or threaten vital structures.

NutraHacker examines the following gene related to NF2-Related Schwannomatosis:

• NF2

For more information about your own genetic profile as related to NF2-Related Schwannomatosis, please check out our NutraHacker WGS Critical Genetics Report.

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