|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sotos syndrome is caused by haploinsufficiency of the NSD1 (nuclear receptor SET domain containing gene 1) gene.
|
15742365 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
|
21196496 |
2011 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These patients emphasize that NSD1 haploinsufficiency is sufficient to cause HI, and suggest that Sotos syndrome should be considered in patients presenting with neonatal HI.
|
30719864 |
2019 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
|
11896389 |
2002 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sotos syndrome was clinically diagnosed in 99% of NSD1-positive individuals, independent of the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition.
|
15942875 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined.
|
14517949 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected.
|
15452385 |
2004 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Explicitly, NSD1 target genes accounting for a subset of Sotos syndrome features and a specific DNA methylation signature have been identified.
|
30601169 |
2019 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series.
|
12807965 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions.
|
15942875 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients.
|
16232326 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown.
|
20101679 |
2010 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
In analogy, we propose that deregulation of the MAPK/ERK pathway in SoS results in altered hypertrophic differentiation of NSD1 expressing chondrocytes and may be a determining factor in statural overgrowth and accelerated skeletal maturation in SoS.
|
23155469 |
2012 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MLPA is a robust, inexpensive, simple technique that reliably detects both 5q35 microdeletions and partial NSD1 deletions that together account for approximately 15% of Sotos syndrome.
|
16140999 |
2005 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.
|
21972110 |
2011 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1.
|
26690673 |
2015 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined.
|
14517949 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series.
|
12807965 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Twenty-nine participants (21 males, 8 females) clinically suspected of Sotos syndrome (mean age 11y 10mo [SD 10y 11mo], range 1y 10mo-48y 5mo) were divided into an NSD1 mutation group (n=12; 8 males, 4 females) and an NSD1 non-mutation group (n=17; 13 males, 4 females).
|
16780628 |
2006 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Blood samples from patients with Sotos syndrome and NSD1-mutant tumours also exhibit hypomethylation of intergenic DNA.
|
31485078 |
2019 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth.
|
16770806 |
2006 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical features typically associated with Sotos syndrome were not found to be significantly different between individuals with and without NSD1 abnormalities.
|
16247291 |
2005 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected.
|
15452385 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a 63-year-old woman with classic features and a pathogenic NSD1 mutation, who we believe to be the oldest reported person with Sotos syndrome.
|
21834047 |
2011 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome.
|
26738611 |
2016 |