Table 1

Human diseases overlapping Cornelia de Lange syndrome (CdLS)

CdLS-likeBRD4It binds to hyperacetylated genomic regions that encompass promoters and enhancers; regulates transcription elongation by paused RNA polymerase II114
CHOPSAFF4It is a scaffold protein comprising the core component of the super elongation complex82
CSSARID1B, ARID1A, ARID2, DPF2, SMARCB1, SMARCA4, SMARCE1, SOX11They are subunits of the ATP‐dependent SWI/SNF (SWItch/sucrose non‐fermentable) chromatin remodelling complex involved in transcription115
KBGANKRD11It is associated with transcription through chromatin modification116
RSTSEP300It functions as histone acetyltransferase that regulates transcription via chromatin remodelling117
WDSTSKMT2AIt is a histone methyltransferase that regulates chromatin-mediated transcription118