|
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 |
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 |
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 |
Sotos syndrome was suspected INTERVENTIONS:: Molecular genetic analysis for NSD1 gene was carried for the patient.
|
30461603 |
2018 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
NSD1 aberrations are rather specific for Sotos syndrome, but have also been detected in patients lacking one or more major criteria of the disorder, namely overgrowth, macrocephaly, and advanced bone age.
|
16010675 |
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 |
NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype.
|
24819041 |
2014 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NSD1 deletions are detectable in overgrowth disorders (Sotos syndrome and Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associated with growth retardation.
|
27172843 |
2017 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.
|
16252063 |
2006 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene); no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported.
|
29164086 |
2017 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1.
|
15640245 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1.
|
15640245 |
2005 |
|
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 |
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 |
Clinically, Weaver syndrome is closely related to Sotos syndrome, which is frequently caused by mutations in NSD1.
|
22287508 |
2012 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.
|
22012791 |
2011 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Defects of the NSD1 gene account for >or=60% of cases of Sotos syndrome, whereas the disease-causing mechanism of other cases remains unknown.
|
14997421 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.
|
15720303 |
2005 |
|
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 |
CLINGEN |
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
|
12525543 |
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 |
GeneticVariation
|
disease |
BEFREE |
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
|
15455365 |
2004 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome.
|
16222665 |
2005 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome.
|
19844260 |
2010 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the NSD1 gene is a hallmark of Sotos syndrome, and rearrangements of this gene by translocation can cause acute myeloid leukemia.
|
15169884 |
2004 |