Premium
SOS1 : a new player in the Noonan‐like/multiple giant cell lesion syndrome
Author(s) -
Han,
Parfait B,
Talaat IM,
Vidaud M,
Elsedfy HH
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01149.x
Subject(s) - noonan syndrome , ptpn11 , cherubism , phenotype , giant cell , biology , osteochondrodysplasia , lesion , mutation , genetics , gene , pathology , medicine , anatomy , kras
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.