Acoustic neurofibromatosis : Abbreviated 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, and juvenile cataracts.
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.
Also known as bilateral acoustic neurofibromatosis and central neurofibromatosis.
No comments:
Post a Comment