Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

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dc.contributor.authorOzgul, Riza Koksal
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorKilic, Mustafa
dc.contributor.authorKucuk, Ozgul
dc.contributor.authorYucel-Yilmaz, Didem
dc.contributor.authorUnal, Ozlem
dc.contributor.authorDursun, Ali
dc.date.accessioned2020-06-25T18:12:06Z
dc.date.available2020-06-25T18:12:06Z
dc.date.issued2014
dc.departmentKırıkkale Üniversitesi
dc.descriptionDursun, Ali/0000-0003-1104-9902; Ozturk-Hismi, Burcu/0000-0001-7146-0248; Ozgul, Riza Koksal/0000-0002-0283-635X
dc.description.abstractWe aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.145delC, c.234 + 3G > C, c.506_507insT, p.Glu85Gln, p.Met147Val, p.Ala268Val, p.Ile287Met, p.Gly346Asp and p.Arg382Trp) and six previously reported (c.456 + 2T > C, p.Arg21His, p.Arg21Pro, p.Arg363Cys, p.Arg363His p.Glu379Lys) pathogenic mutations were identified. Pathogenicity of the novel mutations was supported using computational programs. No clear genotype-phenotype correlation could be determined. One of the cases with the novel c.234 + 3G > C mutation has portoseptal liver fibrosis, the clinical condition that was first reported for IVA. This study is the first comprehensive report from Turkey related to IVA genetics that provides information about the high number of disease-causing novel mutations. (C) 2014 Elsevier Masson SAS. All rights reserved.en_US
dc.description.sponsorship[DPT-1206400603]; [TUBITAK-111S217]en_US
dc.description.sponsorshipThis study was funded by the DPT-1206400603 and TUBITAK-111S217 projects.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1016/j.ejmg.2014.08.006
dc.identifier.endpage601en_US
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue10en_US
dc.identifier.pmid25220015
dc.identifier.scopus2-s2.0-84908206587
dc.identifier.scopusqualityQ3
dc.identifier.startpage596en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2014.08.006
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5731
dc.identifier.volume57en_US
dc.identifier.wosWOS:000343331200010
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevieren_US
dc.relation.ispartofEuropean Journal Of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIsovaleric acidemiaen_US
dc.subjectIVD geneen_US
dc.subjectMutation screeningen_US
dc.subjectGenotype-phenotype correlationen_US
dc.titlePhenotypic and genotypic spectrum of Turkish patients with isovaleric acidemiaen_US
dc.typeArticle

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