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dc.contributor.authorHildebrand, MS
dc.contributor.authorHarvey, AS
dc.contributor.authorMalone, S
dc.contributor.authorDamiano, JA
dc.contributor.authorDo, H
dc.contributor.authorYe, Z
dc.contributor.authorMcQuillan, L
dc.contributor.authorMaixner, W
dc.contributor.authorKalnins, R
dc.contributor.authorNolan, B
dc.contributor.authorWood, M
dc.contributor.authorOzturk, E
dc.contributor.authorJones, NC
dc.contributor.authorGillies, G
dc.contributor.authorPope, K
dc.contributor.authorLockhart, PJ
dc.contributor.authorDobrovic, A
dc.contributor.authorLeventer, RJ
dc.contributor.authorScheffer, IE
dc.contributor.authorBerkovic, SF
dc.date.accessioned2020-12-17T03:49:37Z
dc.date.available2020-12-17T03:49:37Z
dc.date.issued2018-06-01
dc.identifierpii: NG2018007591
dc.identifier.citationHildebrand, 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.
dc.identifier.issn2376-7839
dc.identifier.urihttp://hdl.handle.net/11343/255048
dc.description.abstractObjective: 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.
dc.languageEnglish
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.titleSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
dc.typeJournal Article
dc.identifier.doi10.1212/NXG.0000000000000236
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.affiliation.departmentMedicine and Radiology
melbourne.affiliation.departmentSurgery (Austin & Northern Health)
melbourne.affiliation.departmentClinical Pathology
melbourne.source.titleNeurology Genetics
melbourne.source.volume4
melbourne.source.issue3
dc.rights.licenseCC BY-NC-ND
melbourne.elementsid1328654
melbourne.contributor.authorLeventer, Richard
melbourne.contributor.authorHildebrand, Michael
melbourne.contributor.authorHarvey, Anthony
melbourne.contributor.authorDamiano, John
melbourne.contributor.authorOzturk, Ezgi
melbourne.contributor.authorLockhart, Paul
melbourne.contributor.authorScheffer, Ingrid
melbourne.contributor.authorBerkovic, Samuel
melbourne.contributor.authorKalnins, Renate
melbourne.contributor.authorJones, Nigel
melbourne.contributor.authorDobrovic, Alexander
melbourne.contributor.authorYe, Zimeng
dc.identifier.eissn2376-7839
melbourne.accessrightsOpen Access


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