Abstract
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.
Highlights
Oculo-facio-cardio-dental (OFCD) syndrome is characterized by ocular defects, facial anomalies, congenital cardiac defects [atrial septal defect (ASD), ventricular septal defect (VSD), floppy mitral valve], and dental irregularities [1]
Genetic studies have led to the identification of heterozygous mutations in the BCOR gene, encoding the BCL6 co-repressor, in patients affected by OFCD [4]
We report here 4 females belonging to the same family with phenotypes typical of OFCD syndrome
Summary
Oculo-facio-cardio-dental (OFCD) syndrome is characterized by ocular defects (congenital cataract, microphthalmia, secondary glaucoma), facial anomalies (long and narrow face, high nasal bridge, septate nasal cartilage, cleft palate), congenital cardiac defects [atrial septal defect (ASD), ventricular septal defect (VSD), floppy mitral valve], and dental irregularities (canine radiculomegaly, hypodontia, delayed permanent dentition) [1]. We report a family with 4 affected female patients in three generations, demonstrating vertical transmission of OFCD syndrome. The novel BCOR nonsense mutation c.4438C>T (p.R1480*) was identified in the monozygotic twins, their mother and maternal grandmother in the heterozygous state.
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