TY  - JOUR
AU  - Hildebrand, MS
AU  - Harvey, AS
AU  - Malone, S
AU  - Damiano, JA
AU  - Do, H
AU  - Ye, Z
AU  - McQuillan, L
AU  - Maixner, W
AU  - Kalnins, R
AU  - Nolan, B
AU  - Wood, M
AU  - Ozturk, E
AU  - Jones, NC
AU  - Gillies, G
AU  - Pope, K
AU  - Lockhart, PJ
AU  - Dobrovic, A
AU  - Leventer, RJ
AU  - Scheffer, IE
AU  - Berkovic, SF
Y2  - 2020/12/17
Y1  - 2018/06/01
SN  - 2376-7839
UR  - http://hdl.handle.net/11343/255048
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.
LA  - English
PB  - LIPPINCOTT WILLIAMS & WILKINS
T1  - Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
DO  - 10.1212/NXG.0000000000000236
IS  - Neurology Genetics
VL  - 4
IS  - 3
L1  - /bitstream/handle/11343/255048/PMC5931068.pdf?sequence=1&isAllowed=y
ER  -