Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

TitleSturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Publication TypeJournal Article
Year of Publication2013
AuthorsShirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J
JournalThe New England journal of medicine
Volume368
Issue21
Pagination1971-9
Date Published2013 May 23
Abstract

The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified.

DOI10.1016/j.humpath.2013.02.015
Alternate JournalN. Engl. J. Med.