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

US10544461B2 · kind B2 · utility

Assignees

• THE JOHNS HOPKINS UNIVERSITY · US
• Kennedy Krieger Institute, Inc. · US
• Duke University · US

Inventors

• Jonathan Pevsner · Baltimore, US
• Anne Comi · Baltimore, US
• Douglas A. Marchuk · Chapel Hill, US
• Matthew Shirley · Baltimore, US

Key dates

• Filing date: Apr 16, 2014
• Grant date: Jan 28, 2020
• Expiry date: Oct 31, 2034

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Biotechnology
• WIPO sector: Chemistry

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).