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.authoridTeralı, Kerem/0000-0002-9964-6383
dc.authoridGezdirici, Alper/0000-0002-2432-9279
dc.authoridArslanoğlu, İlknur/0000-0002-4975-9718
dc.authoridDoğan, Mustafa/0000-0003-0464-6565
dc.authoridbolu, semih/0000-0002-8183-2188
dc.authorwosidArslanoğlu, İlknur/HJI-8508-2023
dc.authorwosidEr, Recep/HFZ-9751-2022
dc.authorwosidTeralı, Kerem/Q-3270-2016
dc.authorwosidDoğan, Mustafa/GQQ-1241-2022
dc.authorwosidGezdirici, Alper/W-8459-2018
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.authorTerali, Kerem
dc.date.accessioned2023-07-26T11:51:00Z
dc.date.available2023-07-26T11:51:00Z
dc.date.issued2022
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
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.en_US
dc.description.sponsorshipDuzce University Scientific Research Projects Fund [BAP-2016.04.03.481]en_US
dc.description.sponsorshipThis study was supported by Duzce University Scientific Research Projects Fund (project no.: BAP-2016.04.03.481).en_US
dc.identifier.doi10.1007/s11033-022-07552-5
dc.identifier.endpage7495en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue8en_US
dc.identifier.pmid35733065en_US
dc.identifier.scopus2-s2.0-85132558672en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage7483en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-022-07552-5
dc.identifier.urihttps://hdl.handle.net/20.500.12684/12474
dc.identifier.volume49en_US
dc.identifier.wosWOS:000814480600001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorArslanoğlu, İlknur
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.subjectMonogenic Diabetes; Maturity-Onset Diabetes Of The Young; Mody; Next-Generation Sequencing; Targeted Gene Panelen_US
dc.subjectGlucokinase Gene; Alpha-Gene; Mutations; Children; Gck; Polymorphisms; Guidelines; Phenotype; Diagnosis; Spectrumen_US
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 panelen_US
dc.typeArticleen_US

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