Somatic mutation links port-wine birthmarks, SWS, and melanoma of the eye

The following is an excerpt of a longer story. Find a link to the full story below.

Researchers have identified the gene mutation responsible for the rare neurological condition Sturge-Weber syndrome (SWS) and port-wine birthmarks. The scientists, from the Kennedy Krieger Institute and the Sturge-Weber Foundation, claim that this is the most significant medical advance in the pursuit of a cure for SWS.

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 3 in 1,000 newborns, and estimates for SWS range between one in 20,000 to 50,000 newborns. Prior to this latest research there was no known cause for the disorder, the scientists say. Treatments are available for many of the complications of the disease, but more research is needed to understand how to prevent the medical and developmental problems resulting from it.

View the full story here: Somatic Mutation Links Port-Wine Birthmarks, SWS, and Melanoma of the Eye

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