RT Journal Article
SR Electronic
T1 Somatic <em>GNAQ</em> mutation in the <em>forme fruste</em> of Sturge-Weber syndrome
JF Neurology Genetics
JO Neurol Genet
FD Lippincott Williams &amp; Wilkins
SP e236
DO 10.1212/NXG.0000000000000236
VO 4
IS 3
A1 Hildebrand, Michael S.
A1 Harvey, A. Simon
A1 Malone, Stephen
A1 Damiano, John A.
A1 Do, Hongdo
A1 Ye, Zimeng
A1 McQuillan, Lara
A1 Maixner, Wirginia
A1 Kalnins, Renate
A1 Nolan, Bernadette
A1 Wood, Martin
A1 Ozturk, Ezgi
A1 Jones, Nigel C.
A1 Gillies, Greta
A1 Pope, Kate
A1 Lockhart, Paul J.
A1 Dobrovic, Alexander
A1 Leventer, Richard J.
A1 Scheffer, Ingrid E.
A1 Berkovic, Samuel F.
YR 2018
UL http://ng.neurology.org/content/4/3/e236.abstract
AB Objective To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.Methods We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.Results Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases—ranging from 0.42% to 7.1% frequency—but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal.Conclusions We detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%–18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain.ddPCR=droplet digital PCR; LMA=leptomeningeal angiomatosis; SWS=Sturge-Weber syndrome