|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/- patients and patients without NSD1 gene alterations (NSD1+/+).
|
16188863 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome.
|
16188863 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The FMR1 gene should be analyzed in patients with tall stature and mental retardation, and in these patients the NSD1 gene can be considered whenever some features of Sotos syndrome do exist.
|
16192740 |
2005 |
|
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 |
Biomarker
|
disease |
CTD_human |
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 |
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 |
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 |
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.
|
16252063 |
2006 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
|
16329110 |
2006 |
|
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 |
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 |
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 |
In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once.
|
17056309 |
2007 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
The possibility therefore exists that certain NSD1 mutations are expressed and contribute to the phenotypic variability of Sos.
|
17561922 |
2007 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The possibility therefore exists that certain NSD1 mutations are expressed and contribute to the phenotypic variability of Sos.
|
17561922 |
2007 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study confirms the heterogeneity of NSD1 alterations in Sotos syndrome and therefore the need to complete sequencing analysis by screening for partial deletions and duplications to ensure an accurate molecular diagnosis of this syndrome.
|
17565729 |
2007 |
|
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 |
Biomarker
|
disease |
CTD_human |
Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
|
18001468 |
2007 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
|
18001468 |
2007 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nevertheless, the unusual size of our patient's pilomatricomas could be due to deletion of the NSD1 gene, which characterizes Sotos syndrome.
|
18304174 |
2008 |