Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

doi:10.1038/ng1939

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Article

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Nature genetics - 1 Jan 2007

Tartaglia Marco, Pennacchio Len A, Zhao Chen, Yadav Kamlesh K, Fodale Valentina, Sarkozy Anna, Pandit Bhaswati, Oishi Kimihiko, Martinelli Simone, Schackwitz Wendy, Ustaszewska Anna, Martin Joel, Bristow James, Carta Claudio, Lepri Francesca, Neri Cinzia, Vasta Isabella, Gibson Kate, Curry Cynthia J, Siguero Juan Pedro López, Digilio Maria Cristina, Zampino Giuseppe, Dallapiccola Bruno, Bar-Sagi Dafna, Gelb Bruce D

Abstract excerpt

Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen-activated protein kinase (MAPK) signaling due to PTPN11 and KRAS mutations causes 50% of cases of Noonan syndrome. Here, we report that 22 of 129 individuals with Noonan syndrome without PTPN11 or KRAS mutation have missense mutations in SOS1, which...

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Identifiers

PMID: 17143282
DOI: 10.1038/ng1939

Genes

SOS1
KRAS
PTPN11

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.

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.PMID 17143282Read ↗

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