High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

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dc.contributor.authorTrovó-Marqui, A.B. [UNESP]
dc.contributor.authorGoloni-Bertollo, E.M.
dc.contributor.authorValério, N.I.
dc.contributor.authorPavarino-Bertelli, E.C.
dc.contributor.authorMuniz, M.P.
dc.contributor.authorTeixeira, M.F.
dc.contributor.authorAntonio, J.R.
dc.contributor.authorTajara, E.H.
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionFaculdade de Medicina de São José do Rio Preto (FAMERP)
dc.date.accessioned2014-05-20T15:11:33Z
dc.date.available2014-05-20T15:11:33Z
dc.date.issued2005-09-01
dc.description.abstractA clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.en
dc.description.affiliationUniversidade Estadual Paulista Departamento de Biologia
dc.description.affiliationFaculdade de Medicina de São José do Rio Preto (FAMERP) Departamento de Biologia Molecular Programa NF1
dc.description.affiliationUnespUniversidade Estadual Paulista Departamento de Biologia
dc.format.extent1441-1447
dc.identifierhttp://dx.doi.org/10.1590/S0100-879X2005000900020
dc.identifier.citationBrazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 38, n. 9, p. 1441-1447, 2005.
dc.identifier.doi10.1590/S0100-879X2005000900020
dc.identifier.fileS0100-879X2005000900020.pdf
dc.identifier.issn0100-879X
dc.identifier.scieloS0100-879X2005000900020
dc.identifier.urihttp://hdl.handle.net/11449/28079
dc.language.isoeng
dc.publisherAssociação Brasileira de Divulgação Científica (ABRADIC)
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.relation.ispartofjcr1.492
dc.rights.accessRightsAcesso aberto
dc.sourceSciELO
dc.subjectNeurofibromatosis type Ien
dc.subjectPlexiform neurofibromaen
dc.subjectMental retardationen
dc.subjectLearning difficultiesen
dc.subjectScoliosisen
dc.titleHigh frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1en
dc.typeArtigo

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