Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

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dc.authoridOzgul, Riza Koksal -- 0000-0002-0283-635X
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorKılıç, Mustafa
dc.contributor.authorKüçük, Özgül
dc.contributor.authorYücel-Yılmaz, Didem
dc.contributor.authorÜnal, Özlem
dc.contributor.authorHişmi, Burcu
dc.contributor.authorAliefendioğlu, Didem
dc.contributor.authorSivri, Serap
dc.contributor.authorTokatlı, Ayşegül
dc.contributor.authorCoşkun, Turgay
dc.contributor.authorDursun, Ali
dc.date.accessioned13.07.201910:50:10
dc.date.accessioned2019-07-29T19:28:23Z
dc.date.available13.07.201910:50:10
dc.date.available2019-07-29T19:28:23Z
dc.date.issued2014
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
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.
dc.description.sponsorship[DPT-1206400603]; [TUBITAK-111S217]
dc.description.sponsorshipThis study was funded by the DPT-1206400603 and TUBITAK-111S217 projects.
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.scopusqualityQ3
dc.identifier.startpage596en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2014.08.006
dc.identifier.urihttps://hdl.handle.net/20.500.12451/6032
dc.identifier.volume57en_US
dc.identifier.wosWOS:000343331200010
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectIsovaleric Acidemia
dc.subjectIVD Gene
dc.subjectMutation Screening
dc.subjectGenotype-phenotype Correlation
dc.titlePhenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
dc.typeArticle

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