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

作者：Hanna N^*; Parfait B; Talaat I M; Vidaud M; Elsedfy H H

来源：Clinical Genetics, 2009, 75(6): 568-571.

DOI：10.1111/j.1399-0004.2009.01149.x

• cherubism
• Noonan-like
• multiple giant cell lesion syndrome
• Noonan syndrome
• SOS1

Hanna N, Parfait B, Talaat IM, Vidaud M, Elsedfy HH. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.Clin Genet 2009: 75: 568-571. (C) Blackwell Munksgaard, 2009
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.

• 出版日期2009-6