GS detected a pathogenic heterozygous point mutation NM_004333:c.G1411T(p.V471F) in BRAF gene, which was reported to cause Cardio-Facio-Cutaneous Syndrome (Abe et al., 2012) and Noonan Syndrome (Nystrom et al., 2008; Croonen et al., 2013) in an autosomal dominant manner (Table 3). The gene discussed is BRAF; the disease is cardiofaciocutaneous syndrome.