|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11.
|
27484170 |
2016 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain.
|
26952712 |
2016 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11.
|
24767283 |
2014 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
|
23813970 |
2013 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype.
|
20883402 |
2010 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype.
|
20883402 |
2010 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
[LEOPARD syndrome].
|
19174044 |
2009 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
|
19054014 |
2009 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
|
19864201 |
2009 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.
|
17935252 |
2007 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.
|
17935252 |
2007 |
|
rs121918457
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
rs121918457
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |