Mental Retardation
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0.200 |
GeneticVariation
|
disease |
BEFREE |
Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women.
|
23611944 |
2013 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
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 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
In this study we summarize the results of diagnostic testing of 30 patients with Rett syndrome (RTT) or mental retardation of unknown etiology using bidirectional sequencing of the open reading frame of the MECP2 gene.
|
22277191 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was: (a) to evaluate the incidence and spectrum of MECP2 mutations in children with RTT and variant MR; (b) to evaluate phenotype-genotype correlations.
|
21982064 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RS), an X-linked neurodevelopmental disorder and the common cause of mental retardation in females, is caused by methyl CpG binding protein 2 (MECP2) gene mutations with a frequency of more than 95% in classical Rett patients.
|
21300488 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein2 (MeCP2), is a leading cause of mental retardation in females.
|
21812101 |
2011 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This case broadens the phenotypic spectrum of MECP2 abnormalities with consequent implication in diagnosis and genetic counselling of girls with non-syndromic mental retardation.
|
20236124 |
2010 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR).
|
20098342 |
2010 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
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 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
These findings corroborate other recent reports in the literature and highlight that the overexpression of MECP2 caused by duplications involving this gene is a relatively frequent genetic cause of mental retardation in males, highlighting the importance of MECP2 gene dosage for diagnostic purposes in such cases.
|
19806472 |
2010 |
Mental Retardation
|
0.200 |
Biomarker
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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 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients.
|
18985075 |
2009 |
Mental Retardation
|
0.200 |
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 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.
|
18678449 |
2009 |
Mental Retardation
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0.200 |
Biomarker
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disease |
BEFREE |
We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation.
|
19189931 |
2009 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
Furthermore, duplication of the MECP2 genomic region results in mental retardation with speech and social problems.
|
18321864 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
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disease |
BEFREE |
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
|
18165974 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.
|
18688080 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome, the most common form of mental retardation in young girls, is due to l mutation of MECP2, encoding a methylated DNA binding protein that translates DNA methylation into gene repression.
|
17965627 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
|
17171659 |
2007 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males.
|
17084570 |
2007 |
Mental Retardation
|
0.200 |
Biomarker
|
disease |
BEFREE |
We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
|
17296936 |
2007 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
|
17383248 |
2007 |
Mental Retardation
|
0.200 |
Biomarker
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disease |
BEFREE |
Based on the literature, MECP2 testing in males with MR only is debatable.
|
16376510 |
2006 |