|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such as X-linked mental retardation, severe neonatal encephalopathy and Angelman-like syndrome (AS-like).
|
31647993 |
2019 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR.
|
28394482 |
2017 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities.
|
24914495 |
2014 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Duplication of MECP2 causes a recently described X-linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity.
|
23248047 |
2012 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
MECP2 has also been implicated in variable mental retardation (MR) phenotypes, including X-linked Mental Retardation (XLMR), Fragile-X-like Syndrome (FXS) and Angelman-like (AS) phenotypes.
|
21982064 |
2012 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males.
|
20177701 |
2010 |
|
Mental Retardation, X-Linked
|
0.100 |
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 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications.
|
18985075 |
2009 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females.
|
17084570 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.
|
17296936 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females.
|
17172942 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiatric disorders, autism and X-linked mental retardation in both males and females.
|
16647848 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify duplications, multiplex ligation-dependent probe amplification of the MECP2 gene was performed on male probands from families with X-linked mental retardation.
|
17088400 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We set out to identify long-range cis-regulatory sequences that differentially regulate MECP2 transcription and, when mutated, may contribute to the pathogenesis of RTT, autism or X-linked mental retardation.
|
16613900 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MECP2 cause a variety of neurodevelopmental disorders including X-linked mental retardation, psychiatric disorders, and some cases of autism.
|
16251272 |
2005 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
About 80% of female patients with Rett syndrome (RTT) display a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, but most males with MECP2 mutation experience severe fatal encephalopathy or non-specific X-linked mental retardation (XLMR).
|
16122633 |
2005 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases.
|
15814190 |
2005 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, autonomic nervous system functions have never been investigated in male patients with X-linked mental retardation owing to MECP2 mutations.
|
15704871 |
2004 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes.
|
15211631 |
2004 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MECP2 gene are also associated with other genetic disorders, including X linked mental retardation in males.
|
12843318 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, MECP2 mutations may be associated with non-Rett syndrome clinical phenotypes, including nonsyndromic and syndromic X-linked mental retardation and Angelman-like phenotypes.
|
14649547 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
|
14598336 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the MECP2 gene were reported in males with non-specific mental retardation suggesting that defects in MECP2 could be responsible for up to 2% of X-linked mental retardation.
|
14529314 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
|
14598336 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
|
11885030 |
2002 |