Mutations in the HRAS Gene Observed in Costello syndrome Exon Nucleotide change Mutation Aoki et al. 2005 Gripp et al.2006, Estep et al.2006, Lin et al.2008 Kerr et al. 2006 van Steensel et al. 2006 Zampino et al. 2006 Gripp et al. 2006 Sovik et al. 2008 Lo IFM et al. 2008 Schulz et al. 2007 Denayer et al. 2008 Gripp et al. 2008 Total* Associated tumors 2 c.34G>A p.G12S 7 (1 rhabdo) 44 (5 rhabdo, 1benigh bladder ca) *29 (1 rhabdo) 3 8 (ganlion, vesicular pa, gastric leiomyoma) **1 ― 6 23 ― ― 121 8 (7 rhabdo 1 benigh bladder ca*) 2 c.35G>C p.G12A 2 (1 ganglion) 4 (1 bladder ca) 3 (2 rhabdo) ― ― ― 1 (low grade pappillary bladder ca) 3 3(1 bladder carcinoma) ― ― 16 6 (3 bladder ca, 2 rhabdo, 1 ganglion) 2 c.35GC>TT c.35 G>T (in tumor) p.G12V 1 ― ― ― ― ― ― ― ― ― ― 1   2 c.34G>T p.G12C ― ― 2 (1 rhabdo) ― ― ― ― 1 ― ― ― 3 1 (rhabdo) 2   p.G12E ― ― 1 ― ― ― ― ― ― ― ― 1   2 c.35G>A p.G12D ― ― ― ― ― ― ― 1 ― ― ― 1   2 c.38G>A p.G13D 2 ― ― ― ― ― ― ― 1 ― ― 3   2 c.37G>T p.G13C ― 1 ― ― ― ― ― ― 1 ― ― 2   2 c.64C>A p.Q22K ― ― ― ― ― ― ― ― ― ― ― 0   3 c.173C>T p.T58I ― ― ― ― ― ― ― ― ― ― 1 1   3 c.187G>A p.E63K ― ― ― ― ― ― ― ― ― ― ― 0   4 c.350A>G p.K117R ― ― 1 ― ― ― ― ― ― 1 ― 1   5 c.436G>A p.A146T ― ― ― ― 1 ― ― ― ― ― ― 1   5 c.437C>T p.A146V ― ― ― ― ― ― ― ― ― ― 1 1   Total     12 49 35 3 9 1 1 11 28 1 2 152   JMML, juvenile myelomonocytic leukemia; AML, acute myeloid leukemia, ALL; acute lymphoblastic leukemia, MDS, myelodysplasitc syndrome; CML; chronic myelogenous leukemia; MDS, myelodysplasitc syndrome