The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population

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dc.contributor.authorKaraca, Emin
dc.contributor.authorOnay, Huseyin
dc.contributor.authorCetinkalp, Sevki
dc.contributor.authorAykut, Ayca
dc.contributor.authorGoksen, Damla
dc.contributor.authorOzen, Samim
dc.contributor.authorAtik, Tahir
dc.contributor.authorDarcan, Sukran
dc.contributor.authorTekin, Ismihan Merve
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T10:48:10Z
dc.date.available2019-10-27T10:48:10Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in several genes may cause MODY. Methods: In the present study, we investigated the molecular spectrum of HNF1A (hepatocyte nuclear factor 1a) mutations, in the individuals referred to a reference center for molecular genetic analysis. Mutations screening was performed in a group of 136 unrelated patients (average age 17.22 years) selected by clinical characterization of MODY. Mutation screening involved direct sequencing of the HNF1A gene. Results: Among 136 individuals analyzed, 10 were carrying heterozygous HNF1A mutations, 3 of them being novel. Clinical features, such as age of diabetes at diagnosis or severity of hyperglycemia, were not related to the mutation type or location. No clear phenotype - genotype correlations were identified. Conclusions: As a conclusion MODY resulted from HNF1A mutations shows heterogeneity at both phenotypic and molecular levels in Turkish population. (c) 2017 Published by Elsevier Ltd on behalf of Diabetes India.en_US
dc.identifier.doi10.1016/j.dsx.2017.03.042en_US
dc.identifier.endpageS496en_US
dc.identifier.issn1871-4021
dc.identifier.issn1878-0334
dc.identifier.pmid28395978en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpageS491en_US
dc.identifier.urihttps://doi.org/10.1016/j.dsx.2017.03.042
dc.identifier.urihttps://hdl.handle.net/11454/31508
dc.identifier.volume11en_US
dc.identifier.wosWOS:000419836500085en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Sci Ltden_US
dc.relation.ispartofDiabetes & Metabolic Syndrome-Clinical Research & Reviewsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMODYen_US
dc.subjectHNF1Aen_US
dc.subjectTurkish populationen_US
dc.titleThe spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Populationen_US
dc.typeArticleen_US

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