The Brain Vascular Malformation Consortium (BVMC) and the Sturge-Weber Foundation (SWF) are excited to announce the identification of the gene mutation responsible for Sturge-Weber syndrome and port-wine birthmarks. The new research was published in the May 23, 2013 issue of the The New England Journal of Medicine.
The SWF played an early and critical role in getting this research off the ground. Researchers from the Brain Vascular Malformation Consortium (BVMC) identified a mutation in gene GNAQ on chromosome 9q21 in three individuals with Sturge-Weber syndrome, and confirmed this finding in 23 additional patients.
Additional Information:
- Sturge-Weber Foundation (SWF): Researchers Uncover Cause of Sturge-Weber Syndrome
- NEJM: Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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