SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

doi:10.1002/humu.21492

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Article

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Human mutation - 1 Jul 2011

Lepri Francesca, De Luca Alessandro, Stella Lorenzo, Rossi Cesare, Baldassarre Giuseppina, Pantaleoni Francesca, Cordeddu Viviana, Williams Bradley J, Dentici Maria L, Caputo Viviana, Venanzi Serenella, Bonaguro Michela, Kavamura Ines, Faienza Maria F, Pilotta Alba, Stanzial Franco, Faravelli Francesca, Gabrielli Orazio, Marino Bruno, Neri Giovanni, Silengo Margherita Cirillo, Ferrero Giovanni B, Torrrente Isabella, Selicorni Angelo, Mazzanti Laura, Digilio Maria C, Zampino Giuseppe, Dallapiccola Bruno, Gelb Bruce D, Tartaglia Marco

Abstract excerpt

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mutations and their...

Topics

Adolescent
Adult
Child
Exons
Female
Genetic Association Studies
Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heart Septal Defects, Ventricular

Humans

INDEL Mutation

Introns

Male

Mitogen-Activated Protein Kinase Kinases

Mutation

Mutation, Missense

Noonan Syndrome

Protein Conformation

Pulmonary Valve Stenosis

Source

Open in PubMed Open full text

Identifiers

PMID: 21387466
DOI: 10.1002/humu.21492
PMCID: PMC3118925

Genes

SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.PMID 21387466Read ↗

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