期刊
NEUROLOGY-GENETICS
卷 4, 期 3, 页码 -出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/NXG.0000000000000236
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资金
- National Health and Medical Research Council Program Grant [1091593, 1129054, 1079058]
- Practitioner Fellowship [1006110]
- R.D Wright Career Development Fellowship [1063799]
- Melbourne Children's Clinician Scientist Fellowship
- National Health and Medical Research Council of Australia [1129054] Funding Source: NHMRC
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.
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