The BCL6 corepressor gene (BCOR) encodes an important transcriptional regulator during early embryogenesis. The BCOR gene is located at Xp11.4 and contains 14 coding exons. Various types of mutations in BCOR have been reported in oculofaciocardiodental (OFCD) syndrome and Lenz micropthalmia. OFCD syndrome exhibit an X-linked dominant inheritance pattern while Lenz syndrome is X-linked recessive, and evidence suggests that they are allelic. These two syndromes have similar clinical manifestations, such as ocular anomalies, congenital heart defects, and skeletal deformities (Ng D et al. Nat Genet. 2004;36:411-416).