|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
MTHFR rs1801133: C>T was more prevalent in BWS with KCNQ1OT1 TSS-DMR LOM (p < 0.017); however, the relationship was not significant when the Bonferroni correction for multiple testing was applied (significance, p = 0.0036).
|
30165906 |
2018 |
|
KCNQ1OT1
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations.
|
29047350 |
2017 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
More importantly, this mouse model recapitulates the molecular phenotypic characteristics of the most common form of BWS, including loss of methylation at KvDMR1 and biallelic repression of <i>Cdkn1c</i>, suggesting that deficiency of maternal transcription through KvDMR1 may be an underlying cause of some BWS cases.
|
28428215 |
2017 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BWS is associated with various genetic alterations: a variety of molecular lesions are described on the chromosome 11p15, affecting gene expression for IGF2, H19, CDKN1C and KCNQ1OT1.
|
27345568 |
2016 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2 using high-resolution melting analysis, multiplex ligation-dependent probe amplification, or high-resolution quantitative methylation profiling.
|
27436784 |
2016 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Eighty-eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of KCNQ1OT1:TSS-DMR in comparison with 49% for patients with BWS conceived naturally.
|
27480579 |
2016 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis showed BWS (hypomethylation of the KCNQ1OT1 gene).
|
26367199 |
2015 |
|
KCNQ1OT1
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Indeed, de-methylation of KvDMR accompanied by uncontrolled overexpression of KCNQ1OT1 occurs frequently in Beckwith-Wiedemann syndrome (BWS), and around 10% of BWS patients developed embryonal tumors (Wilms' tumor or hepatoblastoma).
|
25998555 |
2015 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
In patients with BWS due to hypomethylation of KvDMR1, the clinical presentation of HH is quite heterogeneous with no correlation with the degree of KvDMR1 hypomethylation.
|
24468603 |
2015 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer.
|
24767654 |
2014 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether common variation in copy number in the BWS/SRS 11p15 region or altered methylation levels at IGF2/H19 ICR or KCNQ10T1 ICR was associated with SGA.
|
24934635 |
2014 |
|
KCNQ1OT1
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Both patients had an initial clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) but normal methylation analysis for LIT1 and H19 status.
|
24756053 |
2014 |
|
KCNQ1OT1
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
BWS has five known causative epigenetic and genetic alterations: loss of methylation (LOM) at KvDMR1, gain of methylation (GOM) at H19DMR, paternal uniparental disomy, CDKN1C mutations and chromosomal rearrangements.
|
23719190 |
2013 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thirteen BWS patients (72%) harbored loss-of-methylation (LOM) at LIT1-DMR and two patients (11%) harbored gain-of-methylation (GOM) at H19-DMR, whereas two patients (11%) had both LOM at LIT1-DMR and GOM at H19-DMR, reflecting paternal UPD 11.
|
23803580 |
2013 |
|
KCNQ1OT1
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
KCNQ1OT1 (the most-often misregulated imprinted gene in BWS) was biallelically-expressed in various organs in two out of seven overgrown conceptuses from the ART group, but shows monoallelic expression in all tissues of the AI conceptuses.
|
23751783 |
2013 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS.
|
21863059 |
2012 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome.
|
22610651 |
2012 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
|
21920939 |
2012 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
BWS is speculated to occur primarily as the result of the misregulation of imprinted genes associated with two clusters on chromosome 11p15.5, namely the KvDMR1 and H19/IGF2.
|
23153226 |
2012 |
|
KCNQ1OT1
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
To facilitate the diagnosis of epigenetic errors and chromosomal imbalance of 11p15.5, we validated a pyrosequencing assay to measure methylation at KvDMR1 using blood samples from 13 BWS cases, 8 of which showed reduced methylation as compared to control blood.
|
20507345 |
2011 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Because microsatellite analysis furthermore revealed a normal biparental karyotype for chromosome 11, our results point to an exclusive correlation of the observed BWS symptoms to locally restricted epimutations at the KvDMR1 of the maternal chromosome.
|
20618351 |
2011 |
|
KCNQ1OT1
|
0.600 |
Biomarker
|
disease |
BEFREE |
In total 6/90 (6.67%) were shown to have a methylation defect, 2 of which were associated with known imprinting disorders: 1 patient had isolated hypomethylation at IGF2P0, an atypical epigenotype associated with Russell-Silver syndrome, and 1 showed hypomethylation at KvDMR consistent with a diagnosis of Beckwith-Wiedemann syndrome.
|
20635366 |
2010 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We assessed the added diagnostic value of combined LIT1 and H19 testing in a large series of referred samples from 1298 patients, including 53 well-characterized patients from the St. Louis Children's Hospital BWS-Registry (validation samples) and 1245 consecutive nationwide referrals (practice samples).
|
20616360 |
2010 |
|
KCNQ1OT1
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
|
18854861 |
2009 |
|
KCNQ1OT1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a cohort of 149 patients with a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS), including 81 with maternal hypomethylation of the KCNQ1OT1 ICR.
|
19092779 |
2009 |