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    Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

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    Author
    Hildebrand, MS; Harvey, AS; Malone, S; Damiano, JA; Do, H; Ye, Z; McQuillan, L; Maixner, W; Kalnins, R; Nolan, B; ...
    Date
    2018-06-01
    Source Title
    Neurology Genetics
    Publisher
    LIPPINCOTT WILLIAMS & WILKINS
    University of Melbourne Author/s
    Leventer, Richard; Hildebrand, Michael; Harvey, Anthony; Damiano, John; Ozturk, Ezgi; Lockhart, Paul; Scheffer, Ingrid; Berkovic, Samuel; Kalnins, Renate; Jones, Nigel; ...
    Affiliation
    Paediatrics (RCH)
    Medicine and Radiology
    Surgery (Austin & Northern Health)
    Clinical Pathology
    Metadata
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    Document Type
    Journal Article
    Citations
    Hildebrand, M. S., Harvey, A. S., Malone, S., Damiano, J. A., Do, H., Ye, Z., McQuillan, L., Maixner, W., Kalnins, R., Nolan, B., Wood, M., Ozturk, E., Jones, N. C., Gillies, G., Pope, K., Lockhart, P. J., Dobrovic, A., Leventer, R. J., Scheffer, I. E. & Berkovic, S. F. (2018). Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. NEUROLOGY-GENETICS, 4 (3), https://doi.org/10.1212/NXG.0000000000000236.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255048
    DOI
    10.1212/NXG.0000000000000236
    Abstract
    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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