Diagnostic and prognostic test for sturge-weber syndrome, klippel-trenaunay-weber syndrome, and port-wine stains (pwss)

Abstract

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).

1 - 3 . (canceled) 
     
     
         4 . A method for treating a human patient having Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome (KTWS) or Port Wine Stains (PWS) comprising the steps of:
 a. providing a nucleic acid sample from the human patient;   b. detecting whether the somatic mutation c.548G>A in the guanine nucleotide-binding protein G subunit alpha (GNAQ) gene is present in the nucleic acid sample, wherein the detecting step is performed via whole genome sequencing, whole exome sequencing or targeted amplicon sequencing;   c. identifying the human patient as having or likely to have SWS, KTWS or PWS when the somatic mutation c.548G>A is present; and   d. administering an inhibitor of downstream effectors of the GNAQ signaling pathway.   
     
     
         5 . The method of  claim 4 , wherein the inhibitor is a protein kinase C (PKC) inhibitor, a MEK inhibitor, a PI3k/AKT inhibitor, a phospholipase Cβ inhibitor or combinations thereof. 
     
     
         6 - 20 . (canceled)