RESUMO
Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways. Alterations in this protein are responsible for a phacomatosis named neurofibromatosis type 1.
Assuntos
Neurofibromina 1/fisiologia , Sequência de Aminoácidos , Animais , Genes da Neurofibromatose 1 , Humanos , Camundongos , Modelos Animais , Modelos Biológicos , Dados de Sequência Molecular , Neurofibromatose 1/etiologia , Neurofibromatose 1/genética , Neurofibromatose 1/fisiopatologia , Neurofibromina 1/química , Neurofibromina 1/genética , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Isoformas de Proteínas/fisiologia , Estrutura Terciária de Proteína , Homologia de Sequência de Aminoácidos , Transdução de Sinais , Especificidade da EspécieRESUMO
A 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.
Assuntos
Deficiência Intelectual/complicações , Deficiências da Aprendizagem/complicações , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Escoliose/complicações , Adolescente , Adulto , Idoso , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Deficiências da Aprendizagem/epidemiologia , Masculino , Pessoa de Meia-Idade , Neurofibroma Plexiforme/epidemiologia , Neurofibromatose 1/genética , Equipe de Assistência ao Paciente , Polimorfismo Conformacional de Fita Simples , Escoliose/epidemiologiaRESUMO
A 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 percent females, 40 percent males) who met the NIH criteria for the diagnosis of NF1, 98 percent had more than six café-au-lait patches, 94.5 percent had axillary freckling, 45 percent had inguinal freckling, and 87.5 percent had Lisch nodules. Cutaneous neurofibromas were observed in 96 percent, and 40 percent presented plexiform neurofibromas. A positive family history of NF1 was found in 60 percent, and mental retardation occurred in 35 percent. Some degree of scoliosis was noted in 49 percent, 51 percent had macrocephaly, 40 percent had short stature, 76 percent had learning difficulties, and 2 percent 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.
