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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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Abstract

Background

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.

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Acknowledgements

The authors are grateful to all patients and their families for their kind cooperation and assistance in this study.

Funding

This study was supported by Duzce University Scientific Research Projects Fund (project no.: BAP-2016.04.03.481).

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Authors and Affiliations

  1. Department of Medical Genetics, Genetic Diseases Center, Basaksehir Cam and Sakura City Hospital, 34480, Istanbul, Turkey

    Mustafa Doğan & Alper Gezdirici

  2. Department of Medical Genetics, Faculty of Medicine, Aksaray University, 81620, Aksaray, Turkey

    Recep Eröz & Hüseyin Yüce

  3. Department of Pediatric Endocrinology, Faculty of Medicine, Bolu Abant İzzet Baysal University, 14030, Bolu, Turkey

    Semih Bolu

  4. Department of Pediatrics Endocrinology, Faculty of Medicine, Duzce University, 81620, Duzce, Turkey

    İlknur Arslanoğlu

  5. Department of Medical Biochemistry, Faculty of Medicine, Girne American University, 99428, Kyrenia, Cyprus

    Kerem Teralı

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  1. Mustafa Doğan
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Correspondence to Mustafa Doğan.

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This study was approved by Duzce University Faculty of Medicine Non-Invasive Clinical Research Ethics Committee (approval no.: 2016/24). Informed consents were obtained from the patients or their parents who participated in the study and whose data were used for analyses. All authors gave consent to the final draft before it was published in Molecular Biology Reports.

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Doğan, M., Eröz, R., Bolu, S. et al. 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. Mol Biol Rep 49, 7483–7495 (2022). https://doi.org/10.1007/s11033-022-07552-5

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