Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17707
Full metadata record
DC FieldValueLanguage
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorHarvey, A Simon-
dc.contributor.authorMalone, Stephen-
dc.contributor.authorDamiano, John A-
dc.contributor.authorDo, Hongdo-
dc.contributor.authorYe, Zimeng-
dc.contributor.authorMcQuillan, Lara-
dc.contributor.authorMaixner, Wirginia-
dc.contributor.authorKalnins, Renate M-
dc.contributor.authorNolan, Bernadette-
dc.contributor.authorWood, Martin-
dc.contributor.authorOzturk, Ezgi-
dc.contributor.authorJones, Nigel C-
dc.contributor.authorGillies, Greta-
dc.contributor.authorPope, Kate-
dc.contributor.authorLockhart, Paul J-
dc.contributor.authorDobrovic, Alexander-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBerkovic, Samuel F-
dc.date2018-
dc.date.accessioned2018-05-08T23:56:56Z-
dc.date.available2018-05-08T23:56:56Z-
dc.date.issued2018-06-
dc.identifier.citationNeurology. Genetics 2018-06; 4(3): e236-
dc.identifier.issn2376-7839-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17707-
dc.description.abstractTo 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.-
dc.language.isoeng-
dc.titleSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.-
dc.typeJournal Article-
dc.identifier.journaltitleNeurology. Genetics-
dc.identifier.affiliationMurdoch Childrens Research Institute, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Medicine (Royal Melbourne Hospital), University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology, The Alfred Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Paediatrics (Royal Children's Hospital), University of Melbourne, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Pathology, University of Melbourne, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Neurosurgery, Royal Children's Hospital, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Neurosciences, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia-
dc.identifier.affiliationNeurosurgical Department, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia-
dc.identifier.affiliationTranslational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia-
dc.identifier.affiliationSchool of Cancer Medicine, La Trobe University, Melbourne, Victoria, Australia-
dc.identifier.affiliationDepartment of Anatomical Pathology, Austin Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Neuroscience, Central Clinical School, Monash University, Victoria, Australia-
dc.identifier.doi10.1212/NXG.0000000000000236-
dc.identifier.orcid0000-0003-2739-0515-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.orcid0000-0003-3414-112X-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.pubmedid29725622-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.grantfulltextnone-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptOlivia Newton-John Cancer Research Institute-
crisitem.author.deptSurgery (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

40
checked on Jul 19, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.