NRAS Mutations in Noonan Syndrome.

  title={NRAS Mutations in Noonan Syndrome.},
  author={Ellen Denayer and Hilde Peeters and Lieve Sevenants and Murat Derbent and J P Fryns and Eric Legius},
  journal={Molecular syndromology},
  volume={3 1},
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… CONTINUE READING

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