Using whole-exome sequencing, Rivière JB et al. identified de novo missense mutations in the cytoplasmic actin-encoding genes ACTB and ACTG1 in Baraitser-Winter syndrome (a disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect) patients [12]. The gene discussed is ACTB; the disease is Baraitser-Winter cerebrofrontofacial syndrome.