New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey

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dc.authorscopusid56200500500en_US
dc.authorscopusid57220639037en_US
dc.authorscopusid56031176400en_US
dc.authorscopusid57340546900en_US
dc.authorscopusid57339918800en_US
dc.authorwosidAAB-1936-2021en_US
dc.authorwosidK-8579-2019en_US
dc.authorwosid-en_US
dc.authorwosid-en_US
dc.authorwosid-en_US
dc.contributor.authorKarakılıç, Ersen
dc.contributor.authorSaygılı, Emre Sedar
dc.contributor.authorSılan, Fatma
dc.contributor.authorÖnduç, Gonca Gül
dc.contributor.authorAğcaoğlu, Uğurcan
dc.date.accessioned2025-02-06T10:00:31Z
dc.date.available2025-02-06T10:00:31Z
dc.date.issued2021en_US
dc.departmentFakülteler, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBackground: Although monogenic diabetes accounts for a small proportion of diabetes cases, accurate diagnosis may significantly change treatment. This study aimed to contribute to knowledge about the genotype-phenotype relationship in monogenic diabetes. Methods: This study used data from a tertiary centre in Turkey. Genetic analysis outcomes for 36 patients were evaluated. The panel included 23 genes related to maturity-onset diabetes of the young (MODY), neonatal diabetes, and some genes related to hyperglycemic hypoglycemia. The next-generation sequencing method was used after DNA isolation from the peripheral blood. Results: Mutations were identified in 19 (52.8%) of 36 patients. Of the 19 mutations, 7 (36.8%) were new mutations. A total of 20 cases met the MODY clinical criteria, and mutations were identified in 11 (55%) of them. In total, nine patients had more than one mutation. Mutations were identified on the ABCC8 (n = 7), PDX1 (n = 6), GLIS3 (n = 6), ZFP57 (n = 5), GCK (n = 4), HNF1A (n = 3), GLUD (n = 3), and HNF4A, KLF11, NKX2-2, and INSR genes (n = 1 each). Conclusion: Our findings highlight a broad clinical and genetic spectrum of MODY, and genetic analysis may provide a better understanding of diabetes and improve the individualised treatment approach.en_US
dc.identifier.citationKarakılıç, E., Saygılı, E. S., Sılan, F., Önduc, G. G., & Ağcaoğlu, U. (2021). New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey. International Journal of Diabetes in Developing Countries, 42(4), 703–712. https://doi.org/10.1007/s13410-021-01027-2en_US
dc.identifier.doi10.1007/s13410-021-01027-2en_US
dc.identifier.endpage712en_US
dc.identifier.issn0973-3930 / 1998-3832
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85119175752en_US
dc.identifier.scopusqualityQ3
dc.identifier.startpage703en_US
dc.identifier.urihttps://doi.org/10.1007/s13410-021-01027-2
dc.identifier.urihttps://hdl.handle.net/20.500.12428/29562
dc.identifier.volume42en_US
dc.identifier.wosWOS:000719696200001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.institutionauthorKarakılıç, Ersen
dc.institutionauthorSaygılı, Emre Sedar
dc.institutionauthorSılan, Fatma
dc.institutionauthorÖnduç, Gonca Gül
dc.institutionauthorAğcaoğlu, Uğurcan
dc.institutionauthorid0000-0003-3590-2656
dc.institutionauthorid0000-0003-0022-5704
dc.institutionauthorid0000-0001-7191-2240
dc.institutionauthorid0009-0001-3300-2163
dc.institutionauthorid-
dc.language.isoengen_US
dc.publisherSpringeren_US
dc.relation.ispartofInternational Journal of Diabetes in Developing Countriesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMODYen_US
dc.subjectMonogenic diabetesen_US
dc.subjectNeonatal diabetesen_US
dc.subjectNext-generation sequencingen_US
dc.titleNew results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkeyen_US
dc.typearticleen_US

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