|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duplication of MECP2 (Methyl-CpG-binding protein 2) causes severe mental illness called MECP2 duplication syndrome (MDS), yet the underlying mechanism remains elusive.
|
30560934 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections.
|
30788845 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
MECP2-TG is a mouse model of MECP2 duplication syndrome and has been widely used for research on social difficulty and other autism-like disorders.
|
31133783 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity.
|
30642617 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome.
|
29698767 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
MeCP2 has a well-established function in neurodevelopment, as evidenced by the severe neurological impairments characteristic of the Rett syndrome (RTT) pathology and the MeCP2 duplication syndrome (MDS), caused by loss or gain of MeCP2 function, respectively.
|
31527487 |
2019 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
|
29618507 |
2018 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-CpG-binding protein 2 (MeCP2), respectively.
|
29227625 |
2018 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome.
|
29271572 |
2018 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Loss or gain of copy number of the gene encoding the transcription factor methyl-CpG-binding protein 2 (MeCP2) leads to neurodevelopmental disorders (Rett and MeCP2 duplication syndrome), indicating that precisely regulated MeCP2 expression during development is critical for mental health.
|
29847590 |
2018 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1.
|
29341460 |
2018 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we examined visual processing in a mouse model of MECP2 duplication syndrome (MECP2 Tg1 mouse) at 8 and 14 weeks, which were before and after the onset of behavioural symptoms, respectively.
|
28743991 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using a MECP2 transgenic (TG) mouse model for the MECP2 duplication syndrome, we found that adult hippocampal quiescent NSCs were significantly accumulated in TG mice comparing to wild type (WT) mice, the neural progenitor cells (NPCs) were reduced and the neuroblasts were increased in adult hippocampi of MECP2 TG mice.
|
28139724 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome.
|
29141583 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome.
|
28302064 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Loss of function or overexpression of methyl-CpG-binding protein 2 (MeCP2) results in the severe neurodevelopmental disorders Rett syndrome and MeCP2 duplication syndrome, respectively.
|
28138553 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome.
|
27247049 |
2017 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression.
|
26930212 |
2016 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Duplications of MECP2-containing genomic segments cause the MECP2 duplication syndrome, which shares core symptoms with autism spectrum disorders.
|
26808898 |
2016 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
MECP2 is the core gene responsible for MECP2 duplication syndrome.
|
26672597 |
2015 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Next, we applied XHMM to genetically unsolved patients, demonstrating successful identification of pathogenic CNVs: 1.5-1.9-Mb deletions involving NSD1 in patients with unknown overgrowth syndrome leading to the diagnosis of Sotos syndrome, and 6.4-Mb duplication involving MECP2 in affected brothers with late-onset spasm and progressive cerebral/cerebellar atrophy confirming the clinical suspect of MECP2 duplication syndrome.
|
25608832 |
2015 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
|
24970834 |
2014 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD.
|
23169761 |
2013 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This review highlights the functional role of MeCP2 in the brain as a regulator of synaptic and neuronal plasticity as well as its etiological role in the development of Rett syndrome and MECP2 duplication syndrome.
|
22781840 |
2013 |
|
Lubs X-linked mental retardation syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
|
22497713 |
2012 |