Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Twenty percent of BWS patients with ICR1-GOM have genetic defects in ICR1.
|
31235774 |
2019 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome.
|
29470501 |
2018 |
Beckwith-Wiedemann Syndrome
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Maternally inherited genetic defects affecting the ICR1 domain have been associated with ICR1 hypermethylation and Beckwith-Wiedemann syndrome (an overgrowth syndrome, the clinical and molecular mirror of SRS), and paternal deletions of IGF2 enhancers have been detected in four SRS patients.
|
27701793 |
2017 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study of a large maternal deletion encompassing the H19 gene and complete ICR1 is the first to demonstrate transcriptional consequences on IGF2 in addition to methylation effects resulting in severe overgrowth and occurrence of multiple tumors in a BWS patient.
|
27650505 |
2017 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene (CDKN1C) mutation.
|
27372391 |
2016 |
Beckwith-Wiedemann Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Alterations of the imprinting control region 1 (ICR1) at the IGF2/H19 locus resulting in biallelic expression of IGF2 and biallelic silencing of H19 account for approximately 10% of patients with BWS.
|
25943194 |
2015 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of imprinting at the IGF2/ICR1/H19 domain results in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome and Russell Silver syndrome (RSS).
|
25395389 |
2015 |
Beckwith-Wiedemann Syndrome
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Routine diagnostic testing for Beckwith-Wiedemann syndrome (BWS) includes methylation analysis of the imprinting centers ICR1 and ICR2 in DNA extracted from lymphocytes.
|
24704790 |
2015 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, mutational analysis of ICR1 in 11 BWS and 12 SRS patients with ICR1 methylation defects revealed a novel de novo point mutation of the OCT-binding site on the maternal allele in one BWS patient.
|
24299031 |
2014 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Upon ICR1 copy number analysis and sequencing, the same maternal point variant NCBI36:11:g.1979595T>C that had been described previously as a cause of BWS in three brothers, was found.
|
23572028 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Abnormal methylation at the maternally inherited H19 imprinted control region (H19 ICR) is one of the causative alterations leading to pathogenesis of Beckwith-Wiedemann syndrome (BWS).
|
23821645 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Evaluation of ICR1 and ICR2 methylation by pyrosequencing in BWS can improve epigenotype-phenotype correlations, detection of methylation alterations in suspected cases, and identification of UPD.
|
23917791 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Inversely, a gain of methylation at ICR1 is found in 10% of patients with Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome with an enhanced childhood tumor risk.
|
23182821 |
2012 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases).
|
21863054 |
2012 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA methylation defects affecting ICR1 or ICR2 account for approximately 60% of SRS and BWS patients.
|
22150955 |
2012 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetically, BWS is associated with disturbances within two different domains on 11p15 that are controlled by distinct imprinting control regions (ICR), ICR1 and ICR2.
|
19843502 |
2010 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified four constitutional ICR1 genetic defects in BWS patients, including a familial case.
|
20007505 |
2010 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively.
|
19755383 |
2009 |
Beckwith-Wiedemann Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A subset of these patients had 1.4- to 1.8-kb deletions with hypermethylation of the remaining IC1 region and fully penetrant BWS phenotype when transmitted maternally.
|
19293570 |
2009 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
We showed that further epigenetic defects did not occur in the groups of SRS with LOM of ICR1 or mUPD7, and that these subentities do not belong to the diseases with a general hypomethylation defect, such as TNDM and BWS.
|
18341093 |
2007 |
Beckwith-Wiedemann Syndrome
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|