DIAGNOSTIC AND PROGNOSTIC TEST FOR STURGE-WEBER SYNDROME, KLIPPEL-TRENAUNAY-WEBER SYNDROME, AND PORT-WINE STAINS (PWSS)

摘要

The present invention relates to the fields of neurological and skin disorders. More specifically, the present invention provides methods and compositions for diagnosing and prognosing Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome (KTWS), and Port Wine Stains (PWS). In one embodiment, a method for prognosing or monitoring treatment of a patient with SWS, KTWS and/or PWS comprises the steps of (a) providing a sample from the patient undergoing treatment; (b) determining the number of alleles in the sample comprising at least one activating somatic mutation in the guanine nucleotide-binding protein G subunit alpha (GNAQ) gene or protein; (c) comparing the number of alleles comprising the at least one somatic mutation to the number of alleles comprising the somatic mutation from a patient sample provided prior to undergoing treatment; and (d) determining that the patient is improving if there is a decrease in the number of alleles comprising the at least one somatic mutation from the sample of step (a).