|
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 |
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 |
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 |
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 |
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 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The molecular defects of NS are genetically heterogeneous and involve several genes other than PTPN11 related to the RAS-MAPK pathway.
|
19020799 |
2008 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.
|
18203203 |
2008 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The short-term responsiveness to GH therapy in NS with respect to PTPN11 mutations has been addressed in 3 studies in the past.
|
20029239 |
2009 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened a number of solid tumors, including those documented in NS or in which deregulated RAS signaling occurs at significant frequency, for PTPN11 mutations.
|
16631468 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutation accounts for 64.7% of cases with clinical features of Noonan syndrome in India.
|
28607217 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
|
12634870 |
2003 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones.
|
16358218 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This patient provides additional information regarding the genotype-phenotype correlation for PTPN11 T73I mutation in NS.
|
26286251 |
2015 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LS and Noonan syndrome (NS) share many features, including cardiovascular disorders, and PTPN11 gene mutation is commonly reported in both syndromes.
|
19207402 |
2009 |