NF2

About NF2

NF2 on chromosome 22q12.2 encodes merlin, also called schwannomin, a cytoskeleton associated tumor suppressor that helps cells stop dividing when they come into contact with each other. Inherited loss of function variants cause NF2 related schwannomatosis, formerly called neurofibromatosis type 2, an autosomal dominant condition characterized by bilateral vestibular schwannomas, benign tumors of the balance nerves that cause hearing loss, tinnitus, and imbalance, along with meningiomas and spinal tumors. About half of affected people have no family history and carry new variants, and some are mosaic. Despite the shared historical name, it is genetically and clinically distinct from neurofibromatosis type 1. Somatic NF2 inactivation is common in sporadic schwannomas and meningiomas and in mesothelioma. Auditory brainstem implants were originally developed for people with this condition.