Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4.
|
19921286 |
2010 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54).
|
20397747 |
2010 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
LHGDN |
Although MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex.
|
19000991 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome, a severe neurodevelopmental disease associated with ataxia and other post-natal symptoms similar to autism.
|
19319913 |
2009 |
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
MECP2, an X-linked gene encoding the epigenetic factor methyl-CpG-binding protein-2, is mutated in Rett syndrome (RTT) and aberrantly expressed in autism.
|
19386901 |
2009 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
This review compares the evolution of thought within two ‘classic’ epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.
|
20473347 |
2009 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
This raises hopes for a cure of Rett syndrome and related MeCP2 deficiency disorders of the autistic spectrum.
|
19174478 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes".
|
19160128 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RS), a progressive severe neurodevelopmental disorder mainly caused by de novo mutations in the X-chromosomal MeCP2 gene encoding the transcriptional regulator methyl-CpG-binding protein 2, is a leading cause of mental retardation with autistic features in females.
|
19464363 |
2009 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.
|
19000991 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes.
|
20035514 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2.
|
19096215 |
2008 |
Autistic Disorder
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
These results suggest that the aberrant MECP2 methylation in autism brain DNA samples is due to locus-specific rather than global X chromosome methylation changes.
|
19132145 |
2008 |
Autistic Disorder
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
A more frequent occurrence was significantly increased MECP2 promoter methylation in autism male frontal cortex compared to controls.
|
17486179 |
2008 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.
|
19125863 |
2008 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups.
|
17684768 |
2008 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in MECP2 are also found in other neurodevelopmental disorders such as autism, Angelman-like syndrome and non-specific mental retardation.
|
18321864 |
2008 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age.
|
17684768 |
2008 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our previous studies demonstrated that homologous 15q11-13 pairing in neurons was dependent on MeCP2 and was disrupted in RTT and autism cortex.
|
17339270 |
2007 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders.
|
17427193 |
2007 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Decreased dendritic arborization is common to RS and autism, leading to further research on similarities in pathogenesis, including MeCP2 protein levels in autistic brains and MeCP2 effects on genes connected to autism, like DLX5 and genes on 15q11-13 region.
|
17562589 |
2007 |
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Considering the sex difference in autism diagnosis, with males diagnosed four times more often than females, we questioned if a sex difference existed in the expression of MeCP2, in particular within the amygdala, a region that develops atypically in autism.
|
17965589 |
2007 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations in the coding sequence of MeCP2 are not a frequent cause of regression in autism.
|
17413451 |
2007 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Our results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders.
|
17427193 |
2007 |