|
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 |
It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1.
|
12687502 |
2003 |
|
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 |
The results also indicated that Sotos syndrome due to a deletion falls into a contiguous gene syndrome, while Sotos syndrome due to an NSD1 point mutation is a single gene defect, occasionally with an autosomal dominant mode of inheritance.
|
15539801 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus.
|
20503325 |
2010 |
|
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 |
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
|
15455365 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.
|
15362962 |
2004 |
|
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 |
More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed.
|
16969376 |
2007 |
|
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 |
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 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, haploinsufficiency of the NSD1 gene has been identified as the major cause of SoS, with intragenic mutations or submicroscopic microdeletions being found in about 60 to 75% of clinically diagnosed patients with SoS.
|
14631206 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations causes Sotos syndrome (SoS).
|
18505455 |
2008 |
|
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 |
NSD2 haploinsufficiency causes Wolf-Hirschhorn syndrome, while NSD1 mutations lead to the Sotos syndrome.
|
25942451 |
2015 |
|
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 |
Patients with Sotos syndrome show 5q35 deletions involving NSD1 or its point mutations.
|
21834033 |
2011 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To detect both 5q35 microdeletions and partial NSD1 gene deletions we screened 30 Brazilian patients with clinical diagnosis of Sotos syndrome by multiplex ligation dependent probe amplification.
|
19596467 |
2009 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Terminal deletions including the adjacent approximately 2 Mb NSD1-locus show a compound phenotype with overlap to Sotos syndrome.
|
17910075 |
2007 |
|
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 |
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 |
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 |
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.
|
16252063 |
2006 |
|
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 |