Evaluation and identification of ıdua gene mutations in turkishpatients with mucopolysaccharidosis type I

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dc.contributor.authorAtçeken, Nazente
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorYücel Yılmaz, Didem
dc.contributor.authorTokatlı, Ayşegül
dc.contributor.authorCoşkun, Turgay
dc.contributor.authorSivri, Hatice Serap
dc.contributor.authorDursun, Ali
dc.contributor.authorKaraca, Mehmet
dc.date.accessioned2019-06-25T12:30:54Z
dc.date.available2019-06-25T12:30:54Z
dc.date.issued2016
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
dc.descriptionAtçeken, Nazente (Aksaray, Yazar) Karaca, Mehmet (Aksaray, Yazar)
dc.description.abstractBackground/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge. Materials and methods: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was performed among family members to predict the pathogenic effect of novel mutations, and computational programs were used to predict their functional impact. Results: Nine different mutations (c.494-1G>A, c.793-6C>G, c.793-5C>A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X) were identified. Computational analysis results supported the pathogenicity of novel mutations, suggesting improper splicing. Seven already-known polymorphisms were detected in the screened cohort as well. Conclusion: Our results revealed heterogeneity in the mutation spectrum of Turkish patients. Six of the mutations, including the novel ones, have never before been reported in the Turkish population. Moreover, 5 patients who were phenotypically diagnosed with MPS type I could not be confirmed by genetic analysis, indicating the importance of the molecular characterization of MPS subtypes.
dc.identifier.doi10.3906/sag-1411-160
dc.identifier.endpage408en_US
dc.identifier.issn1300-0144
dc.identifier.issue2en_US
dc.identifier.scopusqualityQ1
dc.identifier.startpage404en_US
dc.identifier.urihttps:/dx.doi.org/10.3906/sag-1411-160
dc.identifier.urihttps://hdl.handle.net/20.500.12451/1511
dc.identifier.volume46en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.relation.ispartofTurkish Journal of Medical Sciences
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectIDUA Gene
dc.subjectMutation Analysis
dc.subjectMPS Type I
dc.subjectAlpha-L-İduronidase
dc.subjectIDUA Gen
dc.subjectMutasyon Analizi
dc.subjectMPS Tip I
dc.subjectAlfa-İduronidaz
dc.titleEvaluation and identification of ıdua gene mutations in turkishpatients with mucopolysaccharidosis type I
dc.typeArticle

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