Our data demonstrate that the BCL11B p.R3S substitution underlies craniosynostosis in this patient and that interaction of BCL11B with transcriptional regulatory complexes containing RBBP4/7 plays a key role in the ability of BCL11B to suppress the gene expression program underpinning osteogenic differentiation within mammalian cranial sutures. This evidence concerns the gene BCL11B and craniosynostosis.