SMARCA4 and Coffin-Siris syndrome: CSS has been associated with de novo disruption of ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11, and PHF6 (Schrier Vergano et al. 1993), Pathogenic disruption of SMARCA4 accounts for ∼7% of cases of CSS based on compilation of 172 cases reported in the literature (Schrier Vergano et al. 1993).