SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
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.
Hanna
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INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Paris Cedex 06, France. nadine.hanna@gmail.com
Parfait
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Talaat
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Vidaud
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Elsedfy
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D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D019943:Amino Acid Substitution; D002636:Cherubism / Q000150:complications / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D015726:Giant Cells / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male; D008334:Mandible / Q000473:pathology; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000209:etiology; D020837:SOS1 Protein / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human; D020837:SOS1 Protein; D004247:DNA; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11