2018 - The seventh CdLS gene is discovered.

BRD4 is the seventh “CdLS gene” that is discovered. 

The BRD4 protein is known to interact with the NIPBL protein and mutations in the BRD4 gene have been recently reported in a few individuals with an atypical CdLS presentation [Kline et al. 2018]. The spectrum of clinical features associated with BRD4 is unclear with such few cases reported in the literature at this time [Olley et al. 2018]. However, from those that have been found to carry a BRD4 mutation, significant overlap with CdLS was noted. The key overlapping features observed in those with BRD4 mutations include intrauterine growth retardation (IUGR), global developmental delay, congenital heart defects (PDA, VSD, ASD), hearing loss, seizures, and gastroesophageal reflux. Overlapping facial features include synophrys, arched eyebrows, short nose and anteverted nostrils. Several findings atypical of classic CdLS reported in these individuals include normal height, preauricular ear tag, supernumerary nipple, hypothyroidism, hyperlipidemia, and a thin corpus callosum.