Review article Rett syndrome and the MECP2 gene
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چکیده
First described by Andreas Rett in 1966, Rett syndrome is a severe neurodevelopmental disorder which almost exclusively aVects females. A genetic aetiology was suggested by MZ twin concordance and a case of vertical transmission of the disorder. Although the prevalence is between 1 in 10 000 and 1 in 15 000 female births, >95% of cases arise de novo so the disorder has been considered to be an X linked dominant which is lethal in hemizygous males. The few familial cases are almost invariably connected through the female line
منابع مشابه
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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PURPOSE OF REVIEW New information on the clinical and molecular aspects of Rett syndrome has emerged at an accelerated pace since the identification of mutations in methyl-CpG-binding protein 2 gene (MECP2) was first reported in 1999. Recent reports not only present new insights into the clinical and molecular understanding of this unique disorder but also have important implications for the ne...
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Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...
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Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 ...
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DNA methylation in mammals has long been implicated in the epigenetic mechanism of parental imprinting, in which selective expression of one allele of specific genes is based on parental origin. Methyl CpG binding protein 2 (MeCP2) selectively binds to methylated DNA and mutations in the MECP2 cause the autism‐spectrum neurodevelop‐ mental disorder Rett syndrome. This review outlines the emergi...
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Loss-of-function mutations in the X-linked gene Methyl-CpG-binding protein 2 (MECP2) cause a devastating pediatric neurological disorder called Rett syndrome. In males, these mutations typically result in severe neonatal encephalopathy and early lethality. On the other hand, owing to expression of the normal allele in ∼50% of cells, females do not suffer encephalopathy but instead develop Rett ...
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تاریخ انتشار 2001