|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
|
23446178 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that SHP-2 mutations in Noonan syndrome cause mild GH resistance by a postreceptor signaling defect, which seems to be partially compensated for by elevated GH secretion.
|
15985475 |
2005 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PTPN11 gene was responsible for approximately 50% of the Noonan syndrome (NS), however, we did not find any mutation in PTPN11 in any of seven NS patients analysed.
|
20006740 |
2010 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the haemostatic system in 15 children with genetically proven NS (14 with PTPN11, one with SOS1 mutation).
|
22985731 |
2012 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously.
|
15240615 |
2004 |
|
Noonan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.
|
11704759 |
2001 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Here, we report the spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS.
|
11992261 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.
|
30417923 |
2019 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified 3 individuals with known pathogenic variants in PTPN11 causing undiagnosed Noonan syndrome.
|
23771920 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also report that advanced paternal age was observed among cohorts of sporadic NS cases with and without PTPN11 mutations and that a significant sex-ratio bias favoring transmission to males was present in subjects with sporadic NS caused by PTPN11 mutations, as well as in families inheriting the disorder.
|
15248152 |
2004 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
|
17052965 |
2007 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, imaging and cognitive data were collected from 12 children with PTPN11-related NS, ages 4.0-11.0 years (8.98 ± 2.33) and 12 age- and sex-matched typically developing controls (8.79 ± 2.17).
|
30059958 |
2019 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate.
|
16032767 |
2005 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
|
16733669 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 was also the most frequently detected mutation in patients with NS and NSRD.
|
31837205 |
2020 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS.
|
29125030 |
2018 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.
|
16498234 |
2006 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The study design was to conduct a retrospective analysis of 3 yr of hGH treatment and genotyping of PTPN11 in patients with NS.
|
15956085 |
2005 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2), encoded by PTPN11, which has a role in GH receptor signaling.
|
15985475 |
2005 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Half of the patients with Noonan syndrome (NS) carry mutation of the PTPN11 gene, which plays a role in many hormonal signaling pathways.
|
16263833 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Knowing that NS is phenotypically heterogeneous, molecular characterization of the PTPN11 gene should serve to establish NS diagnosis in patients with atypical features, although lack of a mutation does not exclude the possibility of NS.
|
24183200 |
2013 |