Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We found that 22 cases in a large cohort of patients affected by Beckwith-Wiedemann syndrome (BWS) had IC1 methylated on both parental chromosomes, resulting in biallelic activation of IGF2 and biallelic silencing of H19.
|
19293570 |
2009 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The only known mutations associated with BWS are maternally transmitted translocations, which are clustered in two locations centrometric to IGF2.
|
8968759 |
1996 |
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
|
24916376 |
2014 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We show here that only the paternally-inherited IGF2 allele is transcriptionally active in the index patient of one family with inherited BWS.
|
7957404 |
1994 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study defines one or more gene loci for BWS on 11p15.5 in the genomic region from D11S12 to IGF2.
|
8518793 |
1993 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
These phenotypes establish Igf2 overexpression as a key determinant of Beckwith-Wiedemann syndrome.
|
9349812 |
1997 |
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
BWS is genetically heterogeneous and epigenetic changes in the IGF2/H19 genes resulting in overexpression of IGF2 have been implicated in many cases.
|
10424811 |
1999 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In order to screen for other genetic predispositions to BWS, the conserved sequences between human and mouse differentially methylated regions (DMRs) of the IGF2 gene were analyzed for variants.
|
14645199 |
2004 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
By analysing the methylation pattern at the IGF2-H19 locus together with the clinical phenotypes in the individuals with maternal and those with paternal transmission of five different deletions, we demonstrate that maternal transmission of 1.4-1.8 kb deletions in the IC1 region co-segregates with the hypermethylation of the residual CTSs and BWS phenotype with complete penetrance, whereas normal phenotype is observed upon paternal transmission.
|
17158821 |
2007 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The results clarify and extend previous findings concerning human prenatal IGF2 expression and are consistent with a short range overstimulatory role of locally produced IGF II ensuing after the first trimester in the Beckwith-Wiedemann syndrome.
|
7943172 |
1994 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results indicate that in BWS, (1) H19 imprinting alterations are less frequent than previously estimated, (2) IGF2 imprinting and H19 imprinting are not necessarily coordinated, and (3) alterations in regional replication timing are generally not correlated with either chromosomal rearrangements or the imprinting status of IGF2 and H19.
|
10857747 |
2000 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Here, we have generated and characterized a mouse model that mimics BWS microdeletions to define the role of the deleted sequence in establishing and maintaining epigenetic marks and imprinted expression at the H19/IGF2 locus.
|
24990148 |
2014 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The relevant imprinted chromosomal region in BWS is 11p15.5, which consists of two imprinting domains, IGF2/H19 and CDKN1C/KCNQ1OT1.
|
23719190 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Expression of a high molecular weight form of insulin-like growth factor II in a Beckwith-Wiedemann syndrome associated adrenocortical adenoma.
|
7621447 |
1995 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In contrast to previous reports in which imprinting of the growth stimulator gene, IGF2, has been invoked as the mechanism explaining sporadic cases of BWS (especially in situations where uniparental disomy and trisomy of the 11p15.5 region has occurred), it is suggested that paternal imprinting of a growth suppressor gene, e.g., H19, may be one of the causes of familial BWS.
|
8055321 |
1993 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In Wiedemann-Beckwith syndrome (WBS) a putative disease gene resides at the tip of the short arm of chromosome 11 in the region of the insulin growth like factor II (IGF-II) gene.
|
1356785 |
1992 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
|
9507400 |
1998 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
These mutations result in the hypermethylation of the remaining IC1 region, loss of IGF2/H19 imprinting and fully penetrant BWS phenotype when maternally transmitted.
|
18245780 |
2008 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The genes encoding insulin and insulin-like growth factor II (IGF-II), proteins that affect cellular growth and pancreatic function, have been mapped to 11p15, and their increased expression might, thus, account for the physical features of BWS.
|
3529947 |
1986 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Paternal heterodisomy was excluded for all BWS patients with biallelic expression, suggesting strongly that the BWS phenotype in some patients involves disruption of IGF2 imprinting.
|
8252039 |
1993 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, we showed that a subgroup of BWS patients have loss of methylation (LOM) at a differentially methylated region (KvDMR1) within the KCNQ1 gene centromeric to the IGF2 and H19 genes.
|
11106355 |
2000 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated with a large percentage of patients with the overgrowth and cancer predisposition condition Beckwith-Wiedemann syndrome (BWS).
|
10393948 |
1999 |
Beckwith-Wiedemann Syndrome
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic lesions at chromosome 11p15 have been associated with Beck-Wiedemann syndrome and Wilms' tumour for several years and the presence of the gene encoding insulin-like growth factor-II (IGF-II) in this region has given rise to much speculation over the involvement of this factor in these growth defects.
|
9239720 |
1997 |