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

Authors


Nadine Hanna, INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, 4 avenue de l’Observatoire, 75270 Paris Cedex 06, France.
Tel.: 33 (0)1 53 73 97 25;
fax: 33 (0)1 44 07 17 54;
e-mail: nadine.hanna@gmail.com

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.

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