But scientists now hope that identifying the genetic cause it will help them develop drugs that can block activity in the mutant gene, thus treating SWS and port wine stains far more effectively than at present.

Researchers at the Kennedy Krieger Institute in Baltimore uncovered the mutation by sequencing the genomes of affected and unaffected tissue and blood samples from three people with SWS.

They were able to identify one mutation shared by all three affected samples, in gene GNAQ on chromosome 9q21.

Study author Dr Anne Comi, whose findings are published in the New England Journal of Medicine said: "This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks.

"Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time."

Co-author Dr Jonathan Pevsner said: "This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks.

"While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist.

"The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis."

The team also discovered a link between the mutant gene and a type of melanoma that occurs in the eye, raising hopes that a new method of treating it could also be uncovered.

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Genetic mutation causing port wine stain birthmarks discovered

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