Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas
| العنوان: | Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas |
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| المؤلفون: | E. Montali, Andrea Tedde, L R De Vitis, P. Mennonna, U. Bigozzi, F Vitelli, Laura Papi, Franco Ammannati |
| المصدر: | Human Genetics. 97:632-637 |
| بيانات النشر: | Springer Science and Business Media LLC, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Tumor suppressor gene, Chromosomes, Human, Pair 22, Molecular Sequence Data, Nonsense mutation, Biology, Polymerase Chain Reaction, Meningioma, Loss of heterozygosity, Exon, Genes, Neurofibromatosis 2, Meningeal Neoplasms, otorhinolaryngologic diseases, Genetics, medicine, Humans, Point Mutation, Neurofibromatosis type 2, Frameshift Mutation, neoplasms, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Sequence Deletion, Base Sequence, Point mutation, DNA, DNA, Neoplasm, Exons, medicine.disease, Introns, Mutation, Cancer research, Chromosome Deletion |
| الوصف: | Meningiomas are benign tumors of the central nervous system. They are usually sporadic but can also occur associated with the neurofibromatosis type 2 (NF2) syndrome. The gene responsible for NF2, recently isolated from chromosome 22, encodes a membrane-organizing protein that shows high sequence homology to a protein family thought to link the cytoskeleton with membrane proteins. Mutations of the NF2gene have been described in sporadic meningiomas, exclusively in tumors that show loss of heterozygosity (LOH) of 22q. These preliminary results indicate that the NF2 gene is involved in the pathogenesis of at least a subset of meningiomas, where it does indeed behave as a tumor suppressor gene. In order to characterize better the role of the NF2 gene in the genesis of meningiomas we have examined the entire coding sequence of the gene in 125 meningiomas by single-strand conformational polymorphism analysis; furthermore, LOH analysis for markers of 22q has been carried out. Inactivating mutations were identified in 30% of our samples, all of which also showed LOH of 22q. The majority of mutations identified were frameshifts and nonsense mutations, which are predicted to produce a truncated or nonfunctional protein. We also found two missense and three in-frame deletions that may pinpoint specific regions of the protein critical to its function. Furthermore, the distribution of mutations throughout the gene, suggested that exons 2, 3, 5, 11 and 13 are more frequently involved. Our results reconfirm the importance of the NF2 gene in the pathogenesis of meningiomas and also suggest that there may be a nonrandom clustering of mutations throughout the gene. |
| تدمد: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf02281874 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9151a4e79ae5c2925930f41fcc874cbe https://doi.org/10.1007/bf02281874 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....9151a4e79ae5c2925930f41fcc874cbe |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321203 03406717 |
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| DOI: | 10.1007/bf02281874 |