BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, DDD study, Wendy A. Bickmore, Madapura M. Pradeepa, David R. FitzPatrick

Research output: Contribution to journalArticlepeer-review


We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated histones. BRD4 and NIPBL displayed correlated binding at super-enhancers and appeared to co-regulate developmental gene expression.
Original languageEnglish
Pages (from-to)329–332
Number of pages4
JournalNature Genetics
Issue number3
Early online date29 Jan 2018
Publication statusPublished - Mar 2018

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