» What causes Cornelia de Lange Syndrome

Comparison of the main clinical findings
NIPBL
SMC1A
SMC3
RAD21
BRD4
HDCA8
ANKRD11
Other genes
Mosaicism
Family Recurrence Risk
Summary section (What causes Cornelia de Lange Syndrome)

BRD4

BRD4 codes for a protein that associates with NIPBL and likely attaches to the protein once the cohesin ring has bound the DNA (37). The number of reported individuals with variants involving BRD4 is small, but a deletion that includes BRD4 has an atypical phenotype for CdLS.