Skip to main content
Log in

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience

  • Short Communication
  • Published:
Acta Diabetologica Aims and scope Submit manuscript

A Correction to this article was published on 27 January 2023

This article has been updated

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Change history

References

  1. Marucci A, Rutigliano I, Fini G et al (2022) Role of actionable genes in pursuing a true approach of precision medicine in monogenic diabetes. Genes (Basel) 13

  2. Colclough K, Ellard S, Hattersley A, Patel K (2022) Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of maturity-onset diabetes of the young. Diabetes 71:530–537

    Article  CAS  Google Scholar 

  3. Saint-Martin C, Bouvet D, Bastide M, Bellanné-Chantelot C (2022) Gene panel sequencing of patients with monogenic diabetes brings to light genes typically associated with syndromic presentations. Diabetes 71:578–584

    Article  CAS  Google Scholar 

  4. De Franco E, Saint-Martin C, Brusgaard K et al (2020) Update of variants identified in the pancreatic β-cell K. Hum Mutat 41:884–905

    Google Scholar 

  5. Arya VB, Guemes M, Nessa A et al (2014) Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol 171:685–695

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank all study patients for allowing us to use for scientific purposes the results of genetic testing. We thank all clinicians and nurses who were involved in taking care and referring patients to our center. We thank Dr. Sabrina Prudente (Rome) for interviewing three study patients after reporting by the clinicians and before the genetic test.

Funding

This study was funded by Italian Ministry of University and Research: PON_2017_BIO-D ARS01_00876 (V.T.) and Italian Ministry of Health: Ricerca Corrente 2021–2022 (A.M., R.D.P, C.M. and V.T.).

Author information

Authors and Affiliations

Authors

Corresponding authors

Correspondence to Antonella Marucci or Vincenzo Trischitta.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Standard

This study was conducted in accordance with the principles of the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all participants before enrollment.

Additional information

Managed by Fabrizio Barbetti.

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Marucci, A., Di Paola, R., Rutigliano, I. et al. MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience. Acta Diabetol 60, 131–135 (2023). https://doi.org/10.1007/s00592-022-01982-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00592-022-01982-0

Keywords

Navigation