Mutations identified in genes involved in the VEGF-C/VEGFR3 signaling pathway are commonly associated with primary lymphedema and other lymphatic malformations, which include mutations in critical transcription factors such as GATA2 and FOXC2 (Brouillard et al., 2014; Ostergaard et al., 2011; Kazenwadel et al., 2012; Kazenwadel et al., 2015; Bell et al., 2001; Fang et al., 2000; Finegold et al., 2001; Dagenais et al., 2004; van Steensel et al., 2009; Fauret et al., 2010; Witte et al., 2009). The gene discussed is FOXC2; the disease is primary lymphedema.