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|Title:||Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.|
|Authors:||Hildebrand, Michael S;Harvey, A Simon;Malone, Stephen;Damiano, John A;Do, Hongdo;Ye, Zimeng;McQuillan, Lara;Maixner, Wirginia;Kalnins, Renate M;Nolan, Bernadette;Wood, Martin;Ozturk, Ezgi;Jones, Nigel C;Gillies, Greta;Pope, Kate;Lockhart, Paul J;Dobrovic, Alexander;Leventer, Richard J;Scheffer, Ingrid E;Berkovic, Samuel F|
|Affiliation:||Murdoch Childrens Research Institute, Parkville, Victoria, Australia|
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics (Royal Children's Hospital), University of Melbourne, Parkville, Victoria, Australia
Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
Department of Medicine (Royal Melbourne Hospital), University of Melbourne, Parkville, Victoria, Australia;
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia
Department of Neurosurgery, Royal Children's Hospital, Parkville, Victoria, Australia
Department of Neurosciences, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
Neurosurgical Department, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia
Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
School of Cancer Medicine, La Trobe University, Bundoora, Victoria, Australia
Department of Anatomical Pathology, Austin Health, Heidelberg, Victoria, Australia
Department of Neuroscience, Central Clinical School, Monash University, Victoria, Australia
Department of Neurology, The Alfred Hospital, Melbourne, Victoria, Australia..
|Citation:||Neurology. Genetics 2018-06; 4(3): e236|
|Abstract:||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. 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. 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. 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.|
|Appears in Collections:||Journal articles|
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