title: Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases.
abstract: Neurofibromatosis 2 is a familial syndrome characterized by the development of schwannomas, meningiomas and ependymomas. Most of them are benign however, their location in the nervous system has harmful effects on important cranial and spinal structures. These tumors are developed as the outcome of NF2 gene (22q12) inactivation. The NF2 protein, merlin or schwannomin belongs to the Ezrin, Radixin, Moesin (ERM) family involved in the cytoskeletal network and has a tumor suppressor function. Inactivating mutations occur as "de novo" (more frequently) or as inherited, and most of them are frameshift or nonsense. Our aim is to study NF2 gene alterations in Argentine patients and relate them to clinical features. 10 families and 29 single patients were analyzed for: 1) at-risk haplotype by STR-segregation analysis and 2) NF2 gene mutations by SSCP/heteroduplex/sequencing. The at-risk haplotype was uncovered in 8 families and mutations were identified in 5 patients. The molecular data are in full agreement with the clinical features supporting previous reports. The obtained results were important for the detection of mutation-carrying relatives and exclusion of other individuals from risk.
authors.affiliation: Laboratorio de Neurobiología Molecular, División Neurocirugía, Hospital de Clínicas "José de San Martín", Buenos Aires, Argentina.
authors.forename: Marcela
authors.initials: M
authors.lastname: Ferrer
authors.forename: Aljoscha
authors.initials: A
authors.lastname: Schulze
authors.forename: Sergio
authors.initials: S
authors.lastname: Gonzalez
authors.forename: Verónica
authors.initials: V
authors.lastname: Ferreiro
authors.forename: Patricia
authors.initials: P
authors.lastname: Ciavarelli
authors.forename: José
authors.initials: J
authors.lastname: Otero
authors.forename: Florencia
authors.initials: F
authors.lastname: Giliberto
authors.forename: Armando
authors.initials: A
authors.lastname: Basso
authors.forename: Irene
authors.initials: I
authors.lastname: Szijan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001118:Argentina; D002648:Child; D004806:Ependymoma / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics / Q000503:physiopathology; D008579:Meningioma / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000503:physiopathology; D025581:Neurofibromin 2 / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D025581:Neurofibromin 2