2013). So far, mutations in fourteen genes (PTPN11, SOS1, SOS2, RAF1, RIT1, KRAS, BRAF, NRAS, A2ML1, LZTR1, SHOC2, CBL, MAP2K1, RRAS) have been associated with NS or Noonan‐like disorders (Aoki et al. 2013; Cordeddu et al. 2015; Flex et al. 2014; Pasmant et al. 2009; Vissers et al. 2015; Yamamoto et al., 2015). With regard to the phenotypic presentation, NS is characterized by short stature, distinct facial features, a webbed neck, and heart defects (Tartaglia et al. 2010). The gene discussed is MAP2K1; the disease is Netherton syndrome.