Rett syndrome is a neurodevelopmental disorder that results from mutations in the genes encoding methyl-cytosine-guanosine binding protein 2 located on the X chromosome. Clinical features of central nervous system involvement include regression of developmental milestones in the late infant and early toddler stages, mental retardation, seizures and other electroencephalographic abnormalities. G...

Investigators from the Boston Children's Hospital recorded pattern-reversal visual evoked potentials (VEPs) in Mecp2 heterozygous female mice and in 34 girls with Rett syndrome (RTT).

Autism is a common neurodevelopmental disorder of complex genetic etiology. Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by maternal 15q11-q13 or UBE3A deficiency, have phenotypic and genetic overlap with autism. MECP2 encodes methyl-CpG-binding protein 2 that acts as a transcriptional repressor for methylated gene c...

Both fragile X syndrome and Rett syndrome are commonly associated with autism spectrum disorders and involve defects in synaptic plasticity. MicroRNA is implicated in synaptic plasticity because fragile X mental retardation protein was recently linked to the microRNA pathway. DNA methylation is also involved in synaptic plasticity since methyl CpG-binding protein 2 (MeCP2) is mutated in patient...

Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system. One of the most severe and life-threatening presentations of this syndrome is brainstem dysfunction, which results in autonomic disturbances such as breathing deficits, t...

To the Editor: Rett syndrome is a genetically inherited disorder that almost exclusively affects females. It is characterized by severe mental retardation after a period of apparent normal development for the first 6 to 18 months of life [1]. Other characteristics of the disorder are autistic behavior, myoclonic movements, seizures, apneic spells, aerophagia, tachybradyarrhythmias, serotonin im...

STUDY DESIGN Population-based longitudinal observational study. OBJECTIVE To describe the prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking into account the influences of age, genotype, and ambulatory status. SUMMARY OF BACKGROUND DATA Scoliosis is the most common orthopedic comorbidity in Rett syndrome yet very little is known about its natural hi...

BACKGROUND The expression of MHC class I genes is repressed in mature neurons. The molecular basis of this regulation is poorly understood, but the genes are particularly rich in CpG islands. MeCP2 is a transcriptional repressor that binds to methylated CpG dinucleotides; mutations in this protein also cause the neurodevelopmental disease called Rett syndrome. Because MHC class I molecules play...

UNLABELLED BACKGROUND Mutations in MECP2 encoding methyl-CpG-binding protein 2 (MeCP2) cause the X-linked neurodevelopmental disorder Rett syndrome. Rett syndrome patients exhibit neurological symptoms that include irregular breathing, impaired mobility, stereotypic hand movements, and loss of speech. MeCP2 protein epigenetically modulates gene expression through genome-wide binding to methy...