NF2-associated schwannomatosis, or central neurofibromatosis, is a genetic \u2013 or hereditary \u2013 disease that typically appears during young adulthood and is associated with the development of benign tumors of the central nervous system. What is characteristic in patients with NF2<\/i>-associated schwannomatosis is the development of benign tumors of the 8th cranial nerve, typically on both sides, referred to as bilateral vestibular schwannomas and previously called acoustic neuromas as well. Since the 8th cranial nerve is responsible for hearing and equilibrium, these tumors lead to increasing hearing loss and sometimes to impaired balance or an unsteady gait. Other benign tumors, brain tumors, and spinal tumors may occur as well. A decline in visual acuity, triggered by a special form of juvenile cataract, is also characteristic. NF2<\/i>-associated schwannomatosis is classified as a tumor disposition disease.<\/p>\n<\/div> Synonyms:<\/p>\n<\/div><\/div><\/div> NF2, central neurofibromatosis<\/p>\n<\/div><\/div><\/div><\/div> Gene:<\/p>\n<\/div><\/div><\/div> NF2<\/i> tumour suppressor gene<\/p>\n<\/div><\/div><\/div><\/div> Gen\u00ade products:<\/p>\n<\/div><\/div><\/div> Merlin (Moesin-Ezrin-Radixin-Like Protein)<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Cytoskeletal protein, tumour suppression through (membrane) contact-mediated growth inhibition<\/p>\n<\/div><\/div><\/div><\/div> Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> autosomal dominant (37%), de novo (63%, of which 1\/3 mosaic)<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> 1:25.000-33.000 (in childhood 1:150.000)<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> Severe course (early diagnosis, multiple tumours, early death) with truncating mutations (frameshift or nonsense) in exons 2-13<\/p>\n Moderate-severe course with larger deletions and splice mutations in exons 1-6<\/p>\n Moderate course with truncating mutations in exon 1, splicing mutations in exons 7-15, mosaic for blood-detectable truncating mutations in exons 2-13<\/p>\n Mild course (late diagnosis, often only vestibular schwannomas) with missense mutations and mosaic mutations not detectable in the blood<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Almost 100% in adulthood (up to 30 years)<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>