Archived Q and As

Should I get tested for the GNAQ mutation?

At this point in time, there are very few situations in which testing for the GNAQ mutation helps in the care of patients with Sturge-Weber syndrome or port-wine birthmarks. First of all, genetic test can NOT diagnose Sturge-Weber syndrome in a patient with a facial port-wine stain/ birthmark-the same mutation causes both Sturge-Weber syndrome and isolated port-wine birthmarks.  And then the mutation is only present in affected tissue so a biopsy has to be done, not a blood test. It appears that the R183Q mutation in GNAQ accounts for most cases of Sturge-Weber syndrome.  In the future genetic testing may be useful in distinguishing patients with Sturge-Weber syndrome from those who have capillary malformation and another syndrome with overlapping features, such as Capillary Malformation-Macrocephaly Syndrome. However this awaits further research and discoveries.

However, skin tissue donation is still needed for research.  We will be starting new investigations soon to better understand how the somatic mutation in GNAQ causes the blood vessel malformations.  If interested in helping please contact us at sturgeweber@kennedykrieger.org.

What does the discovery of the somatic mutation mean for new medical advances and cures?

The discovery of the somatic mutation that causes Sturge-Weber syndrome (SWS) and Port-wine (PW) birthmark means two very important things:

  1. We now have good ideas about how to develop animal and culture models of SWS to use for testing new drugs and treatments. We never had that before and that is a huge advance, and
  2. Because a lot is already known about the gene GNAQ and what it does and about drugs that can be used to decrease the over-activation the mutation causes, we are suddenly so much closer to being able to one day offer specific and effective treatments for SWS.

Now that we know which gene and which pathways are the problems, we are currently pursuing research with new and very specific treatment possibilities in mind, and we have a cell culture model to test them in. The work of bringing new medical advances from this discovery has already begun. More time, work and resources are needed, but it will happen.

Does knowing the gene allow one to get a test diagnosing SWS and differentiating that from just a port-wine birthmark?

Not yet. Currently we are also pursuing studies that will enable us to determine what cell type or types have the mutation. The effected gene (GNAQ) is the same but the cell types might be different in SWS and in PW birthmark.

How can I help?

Families or individuals interested in the center, its research, or its services can contact 443-923-9569 or email sturgeweber@kennedykrieger.org.

If you would like to support the center and its research, please visit our How You Can Help page.

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