|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing.
|
22123427 |
2012 |
|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MeCP2 has recently been found to be downregulated in autistic spectrum disorders such as Angelman syndrome (AS) and RTT, which share some phenotypic manifestations.
|
19174478 |
2009 |
|
Angelman Syndrome
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A significant reduction in MeCP2 expression compared to age-matched controls was found in 11/14 autism (79%), 9/9 RTT (100%), 4/4 Angelman syndrome (100%), 3/4 Prader-Willi syndrome (75%), 3/5 Down syndrome (60%), and 2/2 attention deficit hyperactivity disorder (100%) frontal cortex samples.
|
17486179 |
2008 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, some patients with a clinical diagnosis of Angelman syndrome were found to have a mutation in MECP2 gene.
|
15866439 |
2005 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), caused by mutations in MECP2 (encoding methyl CpG binding protein 2), and Angelman syndrome (AS), caused by maternal deficiency of chromosome 15q11-13, are autism-spectrum neurodevelopmental disorders.
|
15689352 |
2005 |
|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, MeCP2 deficiency resulted in elevated histone H3 acetylation and H3(K4) methylation and reduced H3(K9) methylation at the PWS/AS imprinting center, with no effect on DNA methylation or SNRPN expression.
|
15757975 |
2005 |
|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to analyze well-characterized cases with MR and to clarify the role of the MECP2 gene in the etiology of MR and atypical Angelman syndrome.
|
15578581 |
2005 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We screened 24 of the sporadic AS cases without detectable UBE3A mutations for mutations of MECP2, but found none.
|
14981718 |
2004 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
While MECP2 mutations can cause a phenotype reminiscent of AS in rare cases, they fail to account for the excess of sporadic patients with a definitive clinical diagnosis of AS.
|
14981718 |
2004 |
|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
We advise MECP2 examination in AS patients of unknown genetic etiology whose EEG examinations are/were pathognomonic for AS to exclude RS.
|
12460263 |
2002 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus.
|
11238684 |
2001 |
|
Angelman Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13.
|
11283202 |
2001 |
|
Angelman Syndrome
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Angelman Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|