1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2013-27-7-8 10.15844/pedneurbriefs-27-7-8 Neurocutaneous Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Sturge-Weber Syndrome Linked to GNAQ Mutation http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 2013 15 10 2015 27 7 54 54 Copyright: © 2013 The Author(s) 2013 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

Investigators from Johns Hopkins School of Medicine, the Hugo W Moser Research Institute at Kennedy Krieger, Baltimore; Duke University; and Medical College of Wisconsin, Milwaukee, performed whole-genome sequencing of DNA from paired samples of tissue from 3 persons with the Sturge-Weber syndrome (SWS).

 Sturge-Weber Syndrome Vascular Endothelial Cells GNAQ Mutation

Investigators from Johns Hopkins School of Medicine, the Hugo W Moser Research Institute at Kennedy Krieger, Baltimore; Duke University; and Medical College of Wisconsin, Milwaukee, performed whole-genome sequencing of DNA from paired samples of tissue from 3 persons with the Sturge-Weber syndrome (SWS). GNAQ somatic mosaic mutations were identified in 88% of participants (23 of 26) with the SWS and from 92% of participants (12 of 13) with nonsyndromic port-wine stains, but not in any of samples from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from 6 controls. The prevalence of the mutant allele in affected tissues ranged from 1.0 to 18.1%. SWS and port-wine stains are caused by a somatic activating mutation in GNAQ. [1]

COMMENT. These findings identify a single mechanism for the SWS and nonsyndromic port-wine stains and they document a molecular basis for these malformations, causally related to a mutation in a specific gene, GNAQ. The authors hypothesize that the port-wine stains may represent a late origin of the somatic GNAQ mutation in vascular endothelial cells, whereas the SWS mutation may occur earlier in embryotic development. A child born with a port-wine stain in the distribution of the ophthalmic branch of the trigeminal nerve has a 26% chance of having SWS. [2]

Shirley MD Tang H Gallione CJ Baugher JD Frelin LP Cohen B Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ N Engl J Med 2013 May 23 368 21 1971 9 10.1056/NEJMoa1213507 23656586 Ch’ng S Tan ST Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement J Plast Reconstr Aesthet Surg 2008 Aug 61 8 889 93 10.1016/j.bjps.2007.05.011 17604243