Frequency of frontotemporal dementia-related gene variants in Turkey

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dc.contributor.authorArtan, Sevilhan
dc.contributor.authorErzurumluoglu Gokalp, Ebru
dc.contributor.authorSamanci, Bedia
dc.contributor.authorOzbabalik Adapinar, Demet
dc.contributor.authorBas, Hasan
dc.contributor.authorTepgec, Fatih
dc.contributor.authorQomi Ekenel, Emilia
dc.date.accessioned2025-02-06T18:01:21Z
dc.date.available2025-02-06T18:01:21Z
dc.date.issued2021
dc.departmentAltınbaş Üniversitesien_US
dc.description.abstractJust as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GRN and MAPT variants were identified as the most common genetic associations; and rare causes like VCP, TARDBP, CHMP2B and FUS variants are recommended to be considered in patients with compatible clinical findings. © 2021en_US
dc.description.sponsorshipSBAG, (114S346); Türkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAK, (TUBITAK-1001)en_US
dc.identifier.doi10.1016/j.neurobiolaging.2021.05.007
dc.identifier.endpage332.e11en_US
dc.identifier.issn0197-4580
dc.identifier.pmid34162492
dc.identifier.scopus2-s2.0-85108363130
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage332.e1en_US
dc.identifier.urihttps://doi.org/10.1016/j.neurobiolaging.2021.05.007
dc.identifier.urihttps://hdl.handle.net/20.500.12939/5339
dc.identifier.volume106en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevier Inc.en_US
dc.relation.ispartofNeurobiology of Agingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKA_Scopus_20250206
dc.subjectFrontotemporal dementiaen_US
dc.subjectNext generation sequencingen_US
dc.subjectTurkeyen_US
dc.titleFrequency of frontotemporal dementia-related gene variants in Turkeyen_US
dc.typeArticleen_US

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