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Article

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

American journal of medical genetics. Part A - 1 Sept 2010

Longoni Mauro, Moncini Silvia, Cisternino Mariangela, Morella Ilaria M, Ferraiuolo Serena, Russo Silvia, Mannarino Savina, Brazzelli Valeria, Coi Paola, Zippel Renata, Venturin Marco, Riva Paola

Abstract excerpt

Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in PTPN11, RAF1, SOS1, KRAS, and NRAS are responsible for 60-75% of the cases, thus, additional genes are expected to be involved in the pathogenesis. In addition, the genotype-phenotype correlation has been hindered by the highly variable expressivity...

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Source

Identifiers

PMID: 20683980
DOI: 10.1002/ajmg.a.33564

Genes

SOS1
RAF1
GRB2
KRAS
PTPN11
NRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.PMID 20683980Read ↗

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Semantic proximity Read ↗

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.Semantic proximity Read ↗

<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeSemantic proximity Read ↗

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Semantic proximity Read ↗

[SOS1 mutation: a new cause of Noonan syndrome].Semantic proximity Read ↗

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.Semantic proximity Read ↗

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.Semantic proximity Read ↗

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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disordersSemantic proximity Read ↗

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.Semantic proximity Read ↗

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.Semantic proximity Read ↗

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.Semantic proximity Read ↗

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