SOURCE: Sturge-Weber Foundation

Sturge-Weber Foundation

May 08, 2013 17:05 ET

New England Journal of Medicine Publishes Discovery of Gene Mutation That Causes Sturge-Weber Syndrome and Port-Wine Birthmarks

The Sturge-Weber Foundation Applauds Research and Urges Continued Collaboration to Bring New Hope to Families Living With Rare Disorder

MT. FREEDOM, NJ--(Marketwired - May 8, 2013) -  The Sturge-Weber Foundation (SWF) joins patients, families, physicians, researchers and government agencies in celebrating the identification of the gene mutation responsible for the rare neurological condition Sturge-Weber syndrome (SWS) and port-wine birthmarks. The new research, published online today in the New England Journal of Medicine (Epub ahead of print), is the most significant medical advance in the pursuit of a cure for SWS. As a proud founding member of the Brain Vascular Malformation Consortium that made this breakthrough discovery, SWF and its members donated tissue samples and funds to advance this research.

"After 25 years of searching, we finally understand the genetic cause of Sturge-Weber syndrome. We are excited to lead and support continued research to translate this science into new treatment approaches for patients," said Karen L. Ball, the founder, president and chief executive officer of the SWF. "The discovery of this genetic mutation shows what can happen when researchers, patient organizations and government agencies work together toward a common goal."

Sturge-Weber syndrome is a rare neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. Port-wine birthmarks occur in three in 1,000 newborns. While no population-based data exist for how many people have SWS, estimates range between one in 20,000 to 50,000 newborns.1 Prior to this latest research there was no known cause for the disorder. Although treatments are available for many of the complications of the disease, more research is needed to understand how to prevent the medical and developmental problems resulting from it.

In the New England Journal of Medicine paper, researchers found a mutation in the GNAQ gene on chromosome 9q21 in three individuals with SWS whose affected and unaffected tissue and blood samples underwent whole genome sequencing. In a separate analysis, researchers detected the mutation in 23 of 26 tissue samples from patients with SWS, most of which were donated by members of SWF, and in 12 of 13 samples from patients with isolated port-wine birthmarks. The mutation was not present in the control samples and in most of the unaffected samples. The genetic mutation in the GNAQ gene is somatic, which means it occurs after conception and is not inherited or passed on to children. Notably, the GNAQ gene is the same gene that causes uveal (intraocular) melanoma, a type of melanoma that occurs in the middle layer of the wall of the eye.

"We are thrilled to have found the gene mutation responsible for Sturge-Weber syndrome," stated Jonathan Pevsner, Ph.D., Director of Bioinformatics at the Kennedy Krieger Institute and co-senior author of the study. "This allows us to understand the cause of both Sturge-Weber syndrome and port-wine birthmarks, and to begin moving toward treatments. We even found a surprising connection between Sturge-Weber syndrome and a form of melanoma that affects the eye. We greatly appreciate the enormous contributions of the Sturge-Weber Foundation and the collaboration between colleagues at Kennedy Krieger Institute, Duke University and elsewhere. We could not have made this discovery without their passion and enthusiasm."

Researchers, clinicians and families affected by Sturge-Weber syndrome will convene for the 13th Sturge-Weber Foundation International Conference, July 25-27 in Denver, Colorado to discuss the implications of this research and other new developments in the pursuit of a cure for this disorder.

About Sturge-Weber Syndrome
Sturge-Weber syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees.

About the Sturge-Weber Foundation
Since its founding in 1987, the Sturge-Weber Foundation (SWF), a 501 (c) (3) not-for-profit organization, has provided information, education and friendly support to adults and families of children with Sturge-Weber syndrome (SWS), a neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. In 1992, the SWF expanded its outreach to include Klippel-Trenaunay (KT), a vascular disorder involving a port-wine birthmark on the body or a limb. The SWF has initiated and supported comprehensive clinical and basic research into the diagnosis and treatment of these conditions, including the establishment of 10 Centers of Excellence in cities throughout the United States. These centers provide the comprehensive care necessary for treating adults and children who have a port-wine birthmark, SWS or KT. The SWF continues to collaborate, translate the research, and improve the quality of life and care for people with SWS and associated port-wine birthmark conditions. For more information, visit and on Facebook at

About the Brain Vascular Malformation Consortium
The BVMC is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in different forms of brain vascular malformations and improving the care of patients with Sturge-Weber syndrome, capillary cavernous malformations, and hereditary hemorrhagic telangectasias. Funded by the National Institutes of Health (NIH), the BVMC is part of the Rare Diseases Clinical Research Network. The operations of the BVMC are directed from the University of California San Francisco and the primary BVMC Study Sites which include Duke University Medical School, Harvard Medical School-Children's Hospital of Boston, Nationwide Children's Hospital, Barrows Neurological Institute, Wayne State University, Kennedy Krieger Institute, Emory University, Laser and Skin Surgery Center/NYU, and Baylor College of Medicine-Texas Children's Hospital.

1 Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphatic Research and Biology. 2007 Dec; 5(4): 257-264. doi:10.1089/lrb.2007.1016.

Contact Information