A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.

Abstract excerpt

Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the G protein subunit alpha-q protein. The missense mutation R183Q is the sole GNAQ mutation identified thus far in 90% of SWS-associated or isolated capillary...

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• Share to Capillaries
• Share to Endothelial Cells
• Share to GTP-Binding Protein alpha Subunits, Gq-G11