SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

N Hanna; B Parfait; I M Talaat; M Vidaud; H H Elsedfy

doi:10.1111/j.1399-0004.2009.01149.x

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

Clin Genet. 2009 Jun;75(6):568-71. doi: 10.1111/j.1399-0004.2009.01149.x. Epub 2009 May 5.

Authors

N Hanna¹, B Parfait, I M Talaat, M Vidaud, H H Elsedfy

Affiliation

¹ INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Paris Cedex 06, France. nadine.hanna@gmail.com

PMID: 19438935
DOI: 10.1111/j.1399-0004.2009.01149.x

Abstract

Noonan-like/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. PTPN11 gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of SOS1 gene in a family with the Noonan-like/multiple giant cell lesion phenotype.

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Amino Acid Substitution
Cherubism / complications
Cherubism / genetics
Cherubism / pathology
Child
Child, Preschool
DNA / analysis
DNA / genetics
DNA Mutational Analysis
Giant Cells / metabolism
Giant Cells / pathology*
Humans
Male
Mandible / pathology
Noonan Syndrome / complications
Noonan Syndrome / genetics
Noonan Syndrome / pathology
Point Mutation
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
Pulmonary Valve Stenosis / etiology
SOS1 Protein / genetics*

Substances

Adaptor Proteins, Signal Transducing
SH3BP2 protein, human
SOS1 Protein
DNA
PTPN11 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 11