Variant: rs121918457 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112488466
    Alleles of this Variant: C/T

rs121918457 in PTPN11 gene and Hypertrophic Cardiomyopathy PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

PMID 22585553 2012 A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

PMID 23317994 2013 Delayed primary diagnosis of LEOPARD syndrome type 1.

PMID 24037001 2013 Tegumentary manifestations of Noonan and Noonan-related syndromes.

PMID 24775816 2013 LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

PMID 23457302 2013 Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.

PMID 22681964 2011 PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

PMID 25884655 2015 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

PMID 24767283 2014 LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

PMID 25917897 2015 Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 26337637 2016 Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

PMID 27484170 2016 Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 27238887 2016 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

PMID 24935154 2014 Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

PMID 22411627 2012 Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.

PMID 28681392 2017 Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

PMID 25544017 2015 LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

PMID 20493809 2010 Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.

PMID 19133693 2009 Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

PMID 21365175 2011 LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

PMID 15712196 2005 High incidence of malformation syndromes in a series of 1,073 children with cancer.

PMID 22190897 2011 RASopathies: Clinical Diagnosis in the First Year of Life.

PMID 15121796 2004 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

PMID 18849586 2009 Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 19825837 2010 The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.

PMID 23813970 2013 Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

PMID 20535210 2010 Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

PMID 20883402 2010 Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).

PMID 21910245 2011 Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.

PMID 17935252 2007 LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

rs121918457 in PTPN11 gene and LEOPARD Syndrome PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 18849586 2009 Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 19174044 2009 [LEOPARD syndrome].

PMID 16358218 2006 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.

PMID 20883402 2010 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.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 19054014 2009 Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 22681964 2011 PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

PMID 17935252 2007 We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.

PMID 22585553 2012 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.

PMID 24767283 2014 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.

PMID 19133693 2009 Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

PMID 25884655 2015 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

PMID 23813970 2013 Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

PMID 24935154 2014 Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

PMID 19864201 2009 PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

rs121918457 in PTPN11 gene and Leopard Syndrome 1 PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PMID 26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 16733669 2006 "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

PMID 15389709 2004 Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

PMID 16679933 2006 Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

PMID 15121796 2004 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

rs121918457 in PTPN11 gene and Noonan Syndrome 1 PMID 28681392 2017 Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

PMID 24767283 2014 LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

PMID 27659786 2016 Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.

PMID 27238887 2016 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.