Sturge-Weber Syndrome

Book Section

Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood vessels and abnormal venous eye vessels. Occurrence is sporadic and in both males and females and reported in all racial and ethnic backgrounds. The genetic cause accounting for SWS is a somatic mosaic mutation in the GNAQ gene encoding the Gαq protein. Testing for this somatic mosaic mutation may be useful in the future for differentiating a SWS diagnosis in these patients from other capillary malformation related syndromes, such as -megalencephaly-capillary malformation-polymicrogyria syndrome, which also have capillary malformations but are otherwise different in terms of prognosis and associated complications. With the discovery of the causative somatic mosaic mutation, current SWS research will likely result in new in vitro and animal models, potential novel treatment strategies, and new insights into the pathophysiology of this vascular malformation disorder.

Full Text

Duke Authors

Cited Authors

  • Comi, AM; Marchuk, DA; Pevsner, J

Published Date

  • November 13, 2014

Book Title

  • Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition

Start / End Page

  • 945 - 953

International Standard Book Number 13 (ISBN-13)

  • 9780124105492

Digital Object Identifier (DOI)

  • 10.1016/B978-0-12-410529-4.00081-4

Citation Source

  • Scopus