Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21955
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dc.contributor.authorShaw, Marie-
dc.contributor.authorWinczewska-Wiktor, Anna-
dc.contributor.authorBadura-Stronka, Magdalena-
dc.contributor.authorKoirala, Sunita-
dc.contributor.authorGardner, Alison-
dc.contributor.authorKuszel, Łukasz-
dc.contributor.authorKowal, Piotr-
dc.contributor.authorSteinborn, Barbara-
dc.contributor.authorStarczewska, Monika-
dc.contributor.authorGarry, Sarah-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorGecz, Jozef-
dc.date2019-10-23-
dc.date.accessioned2019-10-29T05:03:45Z-
dc.date.available2019-10-29T05:03:45Z-
dc.date.issued2020-04-
dc.identifier.citationEuropean journal of medical genetics 2020; 63(4): 103799-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21955-
dc.description.abstractMutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. Recently epilepsy has also been described as a potentially associated phenotype. Here we further uncover the role of ATP61VB2 in epilepsy and report autosomal dominant inheritance of a novel missense variant in ATP6V1B2 in a large Polish family with relatively mild gingival and nail problems, no phalangeal hypoplasia and with generalized epilepsy. In light of our findings and review of the literature, we propose that the ATP6V1B2 gene should be considered in families with autosomal dominant epilepsy both with or without intellectual disability, and that presence of subtle gingival and nail problems may be another characteristic calling card of affected individuals with ATP6V1B2 mutations.-
dc.language.isoeng-
dc.subjectATP6V1B2-
dc.subjectAutosomal dominant inheritance-
dc.subjectDeafness-onychodystrophy syndrome-
dc.subjectEpilepsy-
dc.subjectZimmerman-laband syndrome-
dc.titleEXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.-
dc.typeJournal Article-
dc.identifier.journaltitleEuropean journal of medical genetics-
dc.identifier.affiliationDepartment of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland-
dc.identifier.affiliationHealthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australiaen
dc.identifier.affiliationDepartment of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland-
dc.identifier.affiliationDepartment of Neurology, Poznan University of Medical Sciences, Poznan, Poland-
dc.identifier.affiliationDepartment of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland-
dc.identifier.affiliationCentral Department of Biotechnology, Tribhuvan University, Kathmandu, Nepalen
dc.identifier.affiliationDepartments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital and Florey Institute, Victoria, Australiaen
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.affiliationAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australiaen
dc.identifier.affiliationRobinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australiaen
dc.identifier.doi10.1016/j.ejmg.2019.103799-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid31655144-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextnone-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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