title: NRAS Mutations in Noonan Syndrome.
abstract: Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but we identified 3 NRAS mutations in 3 probands. One NRAS mutation was novel. The phenotype associated with germline NRAS mutations is variable. Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.
authors.affiliation: Departments of Human Genetics Catholic University of Leuven, Leuven, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Denayer
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.forename: L
authors.initials: L
authors.lastname: Sevenants
authors.forename: M
authors.initials: M
authors.lastname: Derbent
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: E
authors.initials: E
authors.lastname: Legius