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Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients

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Data availability

The datasets generated during and/or analysed during the current study are not publicly available but are available from the corresponding authors on reasonable request.

Abbreviations

ACMG/AMP:

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology

DKA:

Diabetic ketoacidosis

DM:

Diabetes mellitus

MODY:

Maturity-onset diabetes of the young

NGS:

Next-generation sequencing

PNDM:

Permanent neonatal diabetes mellitus

VUS:

Variants of uncertain significance

References

  1. Jacquemin P, Durviaux SM, Jensen J et al (2000) Transcription factor hepatocyte nuclear factor 6 regulates pancreatic endocrine cell differentiation and controls expression of the proendocrine gene ngn3. Mol Cell Biol 20(12):4445–4454. https://doi.org/10.1128/MCB.20.12.4445-4454.2000

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Philippi A, Heller S, Costa IG et al (2021) Mutations and variants of ONECUT1 in diabetes. Nat Med 27(11):1928–1940. https://doi.org/10.1038/s41591-021-01502-7

    Article  CAS  PubMed  Google Scholar 

  3. Pezzilli S, Ludovico O, Biagini T et al (2018) Insights from molecular characterization of adult patients of families with multigenerational diabetes. Diabetes 67(1):137–145. https://doi.org/10.2337/db17-0867

    Article  CAS  PubMed  Google Scholar 

  4. Prudente S, Di Paola R, Pezzilli S et al (2018) Pharmacogenetics of oral antidiabetes drugs: evidence for diverse signals at the IRS1 locus. Pharmacogenomics J 18(3):431–435. https://doi.org/10.1038/tpj.2017.32

    Article  CAS  PubMed  Google Scholar 

  5. Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

    Article  PubMed  PubMed Central  Google Scholar 

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Funding

This work was supported by the Italian Ministry of Health (Ricerca Corrente 2018–2021 to S. P.).

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Authors and Affiliations

Authors

Contributions

SP and FB designed the study, interpreted data and wrote the manuscript. FA performed statistical analyses. LM,F Alberico., AD, GCM, RDP and MC performed genetic analyses, FA, PP, SM, GP, SDC and VT recruited and characterized patients with type 2 diabetes. OL, VT and FB recruited and characterized patients with suspected monogenic diabetes. All authors were involved in the critical revision of the manuscript and approved the final version of this article. SP and FB are the guarantors of this work and, as such, had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Corresponding authors

Correspondence to Sabrina Prudente or Fabrizio Barbetti.

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Conflict of interest

The authors declared that they have no conflict of interest.

Ethical approval

Study protocols and informed consent procedures were approved by the local Institutional Ethic Committees and all participants gave written consent. This study was carried out in accordance with the Declaration of Helsinki, as revised in 2000.

Informed consent

All patients consented to genetic testing.

Additional information

Managed by Antonio Secchi.

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Supplementary Information

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Supplementary file1 (DOCX 22 KB)

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Prudente, S., Andreozzi, F., Mercuri, L. et al. Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients. Acta Diabetol 59, 1113–1116 (2022). https://doi.org/10.1007/s00592-022-01889-w

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  • DOI: https://doi.org/10.1007/s00592-022-01889-w

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