|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
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 |
|
Neurofibromatosis 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Neuropathy
|
|
0.010 |
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 |
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Childhood Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Neuralgia
|
|
0.010 |
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 |
|
Leopard Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
[LEOPARD syndrome].
|
19174044 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
|
19054014 |
2009 |
|
LEOPARD Syndrome
|
|
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 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
|
19864201 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |