NRAS Mutations in Noonan Syndrome | Zendy

Ellen Denayer | Zendy; Hilde Peeters | Zendy; L. Sevenants | Zendy; Murat Derbent | Zendy; J. P. Fryns | Zendy; Eric Legius | Zendy

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<b><i>NRAS</i></b> Mutations in Noonan Syndrome

Author(s) -

Ellen Denayer,

Hilde Peeters,

L. Sevenants,

Murat Derbent,

J. P. Fryns,

Eric Legius

Publication year - 2012

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000338467

Subject(s) - noonan syndrome , medicine , neuroblastoma ras viral oncogene homolog , mutation , genetics , biology , gene , kras

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.

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