RESUMO
The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutation's discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and risk of expansion, has enormously increased. This work pretends to review the recent advances in this syndrome in all its aspects.
Assuntos
Síndrome do Cromossomo X Frágil/genética , Proteínas de Ligação a RNA , Ilhas de CpG/genética , DNA , Feminino , Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil/diagnóstico , Regulação da Expressão Gênica , Genótipo , Humanos , Masculino , Metilação , Mutação , Proteínas do Tecido Nervoso/fisiologia , Fenótipo , Sequências Repetitivas de Ácido Nucleico , Fatores de RiscoRESUMO
The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutations discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and risk of expansion, has enormously increased. This work pretends to review the recent advances in this syndrome in all its aspects.