Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; Kriegsheim, Alex von; Blatnik, Ana; Stewart, Fiona; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo‐Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

doi:10.1038/s41588-018-0069-0

Cited by 2 publications

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“…SMC2 was a particularly attractive candidate as it encodes a protein belonging to the cohesion complex. Pathogenic variants in several other cohesion complex genes are associated with Cornelia de Lange syndrome, including NIPBL, SMC1A, SMC3, HDACB, BRD4 , and RAD21 (Deardorff, Bando, et al, 2012; Deardorff, Wilde, et al, 2012; Gil‐Rodríguez et al, 2015; Kline et al, 2018; Musio et al, 2006; Olley et al, 2018). However, when compared to a large cohort of 9q31 patients, both SMC2 and WHRN mapped outside the common region of overlap (CRO) in many patients (Figure 2).…”

Section: Discussionmentioning

confidence: 99%

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

Brady

Ballantyne

Duck

et al. 2022

Molec Gen & Gen Med

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Background: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss-Kruszka syndrome (OMIM# 618619). There are several older reports in the literature and DECIPER detailing individuals with interstitial deletions of 9q31 involving the ZNF462 gene. Many of the characteristic facial features described in these microdeletion cases are similar to those who have been diagnosed with Weiss-Kruszka syndrome. Methods:We describe three additional patients with overlapping 9q31 deletions and compare the phenotypes of the microdeletion cases reported in the literature to Weiss-Kruszka syndrome.Results: Phenotypic overlap was observed between patients with 9q31 deletions and Weiss-Kruszka syndrome. Several additional features were noted in 9q31 deletion patients, including hearing loss, small head circumference, palate abnormalities and short stature. Conclusions: The common region of overlap of microdeletion cases implicates ZNF462 as the main driver of the recognizable 9q31 microdeletion phenotype.The observation of additional features in patients with 9q31 microdeletions that are not reported in Weiss-Kruszka syndrome further suggests that other genes from the 9q31 region likely act synergistically with ZNF462 to affect phenotypic expression.

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