MOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENE

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dc.authorid0000-0002-3203-741Xen_US
dc.contributor.authorGökşen, Damla
dc.contributor.authorEvin, Ferda
dc.contributor.authorIşık, Esra
dc.contributor.authorÖzen, Samim
dc.contributor.authorAtık, Tahir
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorAkcan, Neşe
dc.contributor.authorÖzkan, Behzat
dc.contributor.authorBüyükinan, Muammer
dc.contributor.authorÖzbek, Mehmet Nuri
dc.contributor.authorDarcan, Şükran
dc.contributor.authorOnay, Hüseyin
dc.date.accessioned2023-10-18T10:32:47Z
dc.date.available2023-10-18T10:32:47Z
dc.date.issued2023en_US
dc.departmentMAÜ, Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractAim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35%) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25%) cases. Four different variants were detected in 4 (4%) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C>T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. Conclusion: Molecular etiology was determined in 35% cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.en_US
dc.identifier.citationGoksen, D., Evin, F., Isik, E., Ozen, S., Atik, T., Ozkinay, F., Akcan, N., Ozkan, B., Buyukinan, M., Nuri Ozbek, M., Darcan, S., & Onay, H. (2023). MOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENE. Diabetes research and clinical practice, 110953. Advance online publication. https://doi.org/10.1016/j.diabres.2023.110953en_US
dc.identifier.doi10.1016/j.diabres.2023.110953en_US
dc.identifier.pmid37838154en_US
dc.identifier.scopus2-s2.0-85174630751en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1016/j.diabres.2023.110953
dc.identifier.urihttps://hdl.handle.net/20.500.12514/4286
dc.identifier.wosWOS:001105255400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÖzbek, Mehmet Nuri
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofDiabetes Research and Clinical Practiceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMonogenic diabetesen_US
dc.subjectTargeted next generation sequencing analysis (NGS)en_US
dc.subjectWhole exome sequencing (WES)en_US
dc.subjectIFIH1en_US
dc.titleMOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENEen_US
dc.typeArticleen_US

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