Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel

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dc.authorid0000-0003-0464-6565
dc.authorid0000-0003-0840-2613
dc.authorid0000-0002-8183-2188
dc.authorid0000-0002-6382-9209
dc.authorid0000-0002-2432-9279
dc.authorid0000-0002-4975-9718
dc.authorid0000-0002-9964-6383
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorEröz, Recep
dc.contributor.authorBolu, Semih
dc.contributor.authorYüce, Hüseyin
dc.contributor.authorGezdirici, Alper
dc.contributor.authorArslanoğlu, İlknur
dc.contributor.authorTaralı, Kerem
dc.date.accessioned2022-06-29T06:16:39Z
dc.date.available2022-06-29T06:16:39Z
dc.date.issued2022
dc.departmentTıp Fakültesi
dc.description.abstractBackground: Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Methods: Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of ten MODY-causal genes involving GCK, HNF1A, HNF1B, HNF4A, ABCC8, CEL, INS, KCNJ11, NEUROD1, PDX1 was designed and subsequently implemented to screen 40 patients for genetic variants. Results: Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 25%. Three variants of uncertain significance were also detected in the same screen. A novel pathogenic variant in the gene HNF1A (c.505_506delAA [p.Lys169AlafsTer18]) was described for the first time in this report. Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Conclusions: Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 2-5% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.
dc.identifier.doi10.1007/s11033-022-07552-5
dc.identifier.endpage-en_US
dc.identifier.issue-en_US
dc.identifier.pmid35733065
dc.identifier.scopusqualityQ2
dc.identifier.startpage-en_US
dc.identifier.urihttps:/dx.doi.org/10.1007/s11033-022-07552-5
dc.identifier.urihttps://hdl.handle.net/20.500.12451/9514
dc.identifier.volume-en_US
dc.identifier.wosWOS:000814480600001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofMolecular Biology Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectMODY
dc.subjectMaturity-onset Diabetes of The Young
dc.subjectMonogenic Diabetes
dc.subjectNext-generation Sequencing
dc.subjectTargeted Gene Panel
dc.titleStudy of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel
dc.typeArticle

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