In a study published in the New England Journal of Medicine, American researchers announce that it is probably the intrauterine mutation of a gene that causes the appearance of birthmarks on the skin of some babies (about one in 300 births). It is the mutation of this gene that would also cause the appearance of Sturge-Weber Syndrome, a vascular malformation (called planar angioma) which is accompanied by eye and neurological disorders. This discovery has been widely applauded by the medical world because it now allows doctors to stop groping in the search for a treatment for Sturge-Weber Syndroe, a rare disease that affects approximately one baby in 20,000 births.
However, the research was not easy to conduct. Parents had to be convinced to agree to give samples of their baby’s skin taken from their birthmark or from their angioma. These samples then made it possible to do a complete sequencing of the genome and to discover that it is an early mutation of the GNAQ gene during the first weeks of pregnancy that causes the appearance of angiomas.
