Somatic activating mutations in the GNAQ have been recently associated with several
congenital genetic disorders and tumors; however, the molecular mechanism/etiology that
leads to GNAQ somatic mosaic mutation are unknown. Here, we reported a case of Sturge-
Weber Syndrome (SWS) manifesting cutaneous vascular malformations (hemifacial Port-
wine stain), cerebral and ocular vascular abnormalities (including epilepsy and glaucoma)
and harboring a c. 548G> A (p. R183Q) somatic mosaic mutation in GNAQ. Computational …