Getting to the root of oculo-facial-cardio-dental syndrome

An insight into the underlying causes of oculo-facial-cardio-dental syndrome (OFCD) ― a rare genetic disorder characterized by elongated roots of teeth, craniofacial, cardiac and eye abnormalities ― is provided online this week in Nature Cell Biology. The study could help shed light on the process that causes this disease.

Mutations in BCOR, a protein associated with shutting down gene expression during fetal development, are known to be associated with OFCD, but how disrupting BCOR function results in the defects seen in OFCD is not known. Cun-Yu Wang and colleagues show that mesenchymal stem cells isolated from the tooth roots of OFCD patients have an enhanced tendency to develop into dental and bone cells. Expressing BCOR in these cells can reverse this phenomenon. Removing BCOR from healthy mesenchymal stem cells was found to also result in increased formation of bone and dental cells.

The authors also show that transcription factor that is known to play a role in craniofacial development, is highly expressed in mesenchymal stem cells from OFCD patients' teeth roots. Removing this factor from the cells reverses their enhanced tendency to develop into dental and bone cells, indicating that this transcription factor is responsible for these changes.

These findings provide a molecular explanation for the exaggerated dental and craniofacial features seen in patients with OFCD.