Cocaine-Related Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212.
|
20711185 |
2010 |
Cocaine-Related Disorders
|
0.500 |
Therapeutic
|
group |
RGD |
MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212.
|
20711185 |
2010 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Consistent with this notion is the recent demonstration that MECP2 mutations cause Rett syndrome (RTT, MIM 312750), a childhood neurological disorder that represents one of the most common causes of mental retardation in females.
|
11242118 |
2001 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
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 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
This study examined the effects of sedation on auditory brainstem response interpeak latency intervals (i.e., I-III, III-V, and I-V) in two groups: (1) a group with Rett syndrome who were positive for mutations in the MECP2 gene and (2) a group negative for mutations in the MECP2 gene but who were severely to profoundly delayed with other causes of mental retardation.
|
20399386 |
2010 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to investigate the role of evolutionarily conserved cis-elements in regulating the post-transcriptional expression of the MECP2 gene and to explore their possible correlations with a mutation that is known to cause mental retardation.
|
24040966 |
2013 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males.
|
18989701 |
2009 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation.
|
17383248 |
2007 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, duplication of the MECP2 genomic region results in mental retardation with speech and social problems.
|
18321864 |
2008 |
Intellectual Disability
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290).
|
24906019 |
2014 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
The nervous system is so acutely sensitive to the dose of methyl-CpG-binding protein 2 (MeCP2) that even a twofold change in MeCP2 protein-either increased or decreased-results in distinct disorders with overlapping features including ID, autistic behavior, and severe motor dysfunction.
|
28835516 |
2017 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype.
|
16080119 |
2005 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Based on the literature, MECP2 testing in males with MR only is debatable.
|
16376510 |
2006 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females.
|
10814718 |
2000 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation.
|
19189931 |
2009 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
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 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
In this study, the question was addressed as to whether implementation of systematic screening of MECP2 in patients with an unexplained mental retardation in DNA diagnostics would be reasonable, and the spectrum of phenotypes resulting from mutations in this gene was further explored.
|
14560307 |
2004 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
CTD_human |
Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR).
|
20098342 |
2010 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
LHGDN |
We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
|
17296936 |
2007 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Genes with DNMs overlapped with genes implicated in autism (for example, AUTS2, CHD8 and MECP2) and intellectual disability (for example, HUWE1 and TRAPPC9), supporting a shared genetic etiology between these disorders.
|
24776741 |
2014 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
|
17296936 |
2007 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).
|
22123427 |
2012 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To date, descriptions have been published of two patients with independent familial mental retardation (MR) and two patients with sporadic MR who harbor this specific mutation in the MECP2 gene.
|
11885030 |
2002 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation.
|
12555243 |
2003 |