|
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 |
It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants.
|
31479583 |
2019 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Strikingly, such a reversed phenotype has already been described in patients harboring microduplications encompassing NSD1, the gene whose deletions and loss-of-function variants are responsible for classical Sotos syndrome.
|
29184170 |
2018 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay.
|
28128410 |
2017 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The 'NSD1 subtypes' of HNSC and LUSC are highly correlated at the DNA methylation and gene expression levels, featuring ectopic expression of developmental transcription factors and genes that are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations.
|
29213088 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
This finding expands the phenotypic spectrum associated with variable expression of the Sotos syndrome caused by NSD1 mutation, and it adds further support for postconceptual mutation, epigenetic change and/or an environmental factor involved in the cause of the Sotos syndrome.
|
28457852 |
2017 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
PHDVC5HCHNSD1 is also crucial for NSD1-dependent transcriptional regulation and interacts with the C2HR domain of transcriptional repressor Nizp1 (C2HRNizp1)in vitro To get molecular insights into the mechanisms dictating the patho-physiological relevance of the PHD finger tandem domain, we solved its solution structure and provided a structural rationale for the effects of seven Sotos syndrome point-mutations.
|
26896805 |
2016 |
|
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 |
|
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 |
NSD2 haploinsufficiency causes Wolf-Hirschhorn syndrome, while NSD1 mutations lead to the Sotos syndrome.
|
25942451 |
2015 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Next, we applied XHMM to genetically unsolved patients, demonstrating successful identification of pathogenic CNVs: 1.5-1.9-Mb deletions involving NSD1 in patients with unknown overgrowth syndrome leading to the diagnosis of Sotos syndrome, and 6.4-Mb duplication involving MECP2 in affected brothers with late-onset spasm and progressive cerebral/cerebellar atrophy confirming the clinical suspect of MECP2 duplication syndrome.
|
25608832 |
2015 |
|
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 |
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
|
25510705 |
2014 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1.
|
23913520 |
2013 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome.
|
24060089 |
2013 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sixteen NSD1 intragenic deletions (including one in a mosaic condition) and one partial duplication have been reported in patients with Sotos syndrome.
|
23341071 |
2013 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study was performed to investigate the mutation spectrum of NSD1 abnormalities and meaningful genotype-phenotype correlations in Korean patients with Sotos syndrome.
|
23190751 |
2013 |
|
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 |
Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities.
|
22926222 |
2012 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Up to 90% of individuals affected by Sotos syndrome have a pathogenic alteration of NSD1 (encodes nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1), a histone methyltransferase that functions as both a transcriptional activator and a repressor.
|
21204797 |
2012 |