Neurofibromatosis type 1 (NF2)

• A genetic disorder characterized by the growth of benign tumors of both acoustic nerves (the nerves to the ears). These tumors are called acoustic neuromas or, more precisely, vestibular schwannomas.
• They cause tinnitus (ringing in the ears), hearing loss, and problems with balance.
• Other findings in NF2 include schwannomas of other nerves, meningiomas (tumour of the meninges), and juvenile cataracts.
• Also known as bilateral acoustic neurofibromatosis and central neurofibromatosis.

Cause:

• NF2 is inherited in an autosomal dominant manner and is due to mutation in the NF2 gene in chromosome band 22q12.2 which encodes a protein called merlin.
  • About 50% of persons with NF2 inherit it from an affected parent and the other 50% with NF2 have a new gene mutation. Anyone with NF2 has a 50% risk of transmitting it to each of their children. Prenatal testing is available.