Coffin-Siris syndrome, an autosomal condition, is caused by mutations in any of the following genes: ARID1A (AT Rich Interactive Domain 1A), ARID1B (AT Rich Interactive Domain 1B), SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4), SMARCB1 and SMARCE1 [7]. The gene discussed is ARID1A; the disease is Coffin-Siris syndrome.