Disease relevance of Neurofibromatosis 2

• Blood samples from 125 families with classic type 2 neurofibromatosis with bilateral vestibular schwannomas were analyzed for mutations in the NF2 gene [1].
• Neurofibromatosis 2 (NF2), also known as bilateral acoustic neurofibromatosis or central neurofibromatosis, is a severe autosomal dominant disease characterized by the development of multiple nervous system tumors [2].
• Reverse genetic strategies have resulted in the cloning of the neurofibromatosis-1 and neurofibromatosis-2 genes, the molecular physiology of the p53 gene, and work is in progress toward identifying specific genes in each of the other major genomic regions in which genetic events accumulate during malignant progression in human gliomas [3].
• A diagnosis of Neurofibromatosis-2 (NF2) is strongly suspected, because of well established fact, that the spinal ependymomas may have association with lower cranial nerve schwannomas in NF2 [4].

High impact information on Neurofibromatosis 2

• These results are consistent with the fact that human Merlin is encoded by the gene for the tumour suppressor neurofibromatosis-2 and is a member of the Ezrin-Radixin-Moesin family of proteins that link actin to transmembrane proteins [5].
• To understand the basic cellular functions of Merlin, we are investigating a Drosophila Neurofibromatosis-2 homologue, Merlin [6].
• At follow-up no Lisch nodules were detected in 2 neurofibromatosis type 2 patients, in 4 patients in whom the diagnosis of NF1 remained doubtful and in 15 patients without NF1 [7].
• Bilateral acoustic neurofibromatosis camouflaged by corticosteroid treatment of sudden sensorineural hearing loss [8].

Chemical compound and disease context of Neurofibromatosis 2

• The neurofibromatosis-2 homologue, Merlin, and the tumor suppressor expanded function together in Drosophila to regulate cell proliferation and differentiation [6].

Biological context of Neurofibromatosis 2

• This defined set of linked markers will also permit testing chromosome 22 for the presence of particular disease genes by family studies and should immediately support more precise mapping and identification of flanking markers for NF2, the defective gene causing bilateral acoustic neurofibromatosis [9].

References