Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge–Weber syndrome
L Huang, JA Couto, A Pinto, S Alexandrescu… - Pediatric …, 2017 - Elsevier
Abstract Background Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous
disorder characterized by facial and extracraniofacial capillary malformations and capillary-
venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c. 548G>
A; p. R183Q) was found in SWS brain and skin capillary malformations. Our laboratory
showed endothelial cells in skin capillary malformations are enriched for the GNAQ
mutation. The purpose of this study is to determine whether the GNAQ mutation is also …
disorder characterized by facial and extracraniofacial capillary malformations and capillary-
venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c. 548G>
A; p. R183Q) was found in SWS brain and skin capillary malformations. Our laboratory
showed endothelial cells in skin capillary malformations are enriched for the GNAQ
mutation. The purpose of this study is to determine whether the GNAQ mutation is also …
