Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

Oculofaciocardiodental (OFCD) syndrome (OMIM # 300166) is a rare condition with a characteristic combination of ocular, facial, cardiac and dental abnormalities. The most common clinical features are congenital cataract, microphthalmia, broad nasal tip, long philtrum, syndactyly, atrial or ventricular septal defect (ASD or VSD), cleft palate, radiculomegaly, delayed eruption and persistent primary dentition.
The genetic analysis of OFCD patients revealed that heterozygous mutations in the BCOR (BCL-6 interacting corepressor) gene on chromosome Xp11.4 are responsible for the phenotype. Deletions, amino acid substitutions and splice-site mutations have been described. Here, we report on the clinical and molecular data of three new patients with OFCD and review the literature for all published patients and their mutations in the BCOR gene.