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The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome 

The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome
Chapter:
The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome
Author(s):

Emma Hilton

, Graeme C. M. Black

, and Vivian Bardwell

DOI:
10.1093/med/9780199934522.003.0147
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date: 24 February 2021

Further to reports linking congenital cataract and radiculomegaly (Hayward, 1980; Marashi and Gorlin, 1990; Marashi and Gorlin, 1992), Wilkie et al. (1993) proposed that this phenotype, in combination with distinctive cardiac and facial findings, comprised a novel syndrome and the term oculofaciocardiodental (OFCD) syndrome was coined (Gorlin et al., 1996). OFCD syndrome is formally named as syndromic microphthalmia 2 (MCOPS2; OMIM #300166). However, the term OFCD syndrome is used throughout this chapter. To date, OFCD syndrome has been reported in 81 females and is presumed to be lethal in males. In 2004, Ng et al. demonstrated that putative null mutations in the BCOR gene, which encodes a BCL6 interacting corepressor, are responsible for OFCD syndrome (Ng et al, 2004). BCOR, located on chromosome Xp11.4, is widely expressed and the encoded protein functions as a transcriptional corepressor (Huynh et al. 2000). BCOR associates with Polycomb group (PcG) proteins to form a chromatin-modifying polycomb repressive complex 1 (PRC1)-like complex. Here, we review current knowledge of OFCD syndrome and the function of BCOR.

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