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Letter

Nature Genetics 39, 70–74 (1 January 2007) | doi:10.1038/ng1926

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Amy E Roberts , Toshiyuki Araki , Kenneth D Swanson , Kate T Montgomery , Taryn A Schiripo , Victoria A Joshi , Li Li , Yosuf Yassin , Alex M Tamburino , Benjamin G Neel & Raju S Kucherlapati

Noonan syndrome, the most common single-gene cause of congenital heart disease, is characterized by short stature, characteristic facies, learning problems and leukemia predisposition. Gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase SHP2, cause |[sim]|50% of Noonan syndrome cases.