Fibronectin: characterization of a somatic mutation in Sturge-Weber syndrome (SWS).

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma. The cause of this disease remains unclear. Due to the occurrence of localized abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin gene expressions in the SWS port-wine-derived fibroblasts are increased. Fibronectin is an important extracellular matrix molecule with key roles in regulating angiogenesis and vasculogenesis, in maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. This is consistent with the presence of a hypothesized somatic mutation underlying SWS. In this study, we have proposed that fibronectin may be reflection of somatic mutation. Further research should be done to study the role of fibronectin in the pathogenesis of SWS. Understanding the pathophysiology of Sturge-Weber syndrome will help us to establish future neuroprotective strategies and novel treatment modalities.