Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Julia Mührer; Mariarosaria Lang-Muritano; Roger Lehmann; Jean-Louis Blouin; Valerie M. Schwitzgebel

doi:10.1515/jpem-2022-0356

Article

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Julia Mührer , Mariarosaria Lang-Muritano , Roger Lehmann , Jean-Louis Blouin and Valerie M. Schwitzgebel

Published/Copyright: October 13, 2022

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 1

Abstract

Objectives

We aimed to identify the origin of atypical diabetes in a family with four generations of diabetes from South Asia. The family members showed different clinical phenotypes. Members of generation one to three were presumed to have type 2 diabetes and generation four to have type 1 diabetes.

Case presentation

We performed a genetic analysis of the family using targeted high throughput sequencing.

Conclusions

We identified a novel nonsense variant in the neurogenic differentiation 1 (NEUROD1) gene, co-segregating with diabetes. The variant was located in the DNA-binding domain, altering a protein residue that was very well conserved among different species.

Keywords: high throughput sequencing; MODY; monogenic diabetes

Corresponding author: Prof. Valerie M. Schwitzgebel, Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, 6, rue Willy-Donzé, 1211 Geneva, Switzerland, Phone: +41 22 372 45 92, Fax: +41 22 372 45 88, E-mail: valerie.schwitzgebel@unige.ch

Funding source: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Award Identifier / Grant number: CR33I3_140655

Acknowledgments

We thank Rachel Aronoff for proofreading the manuscript.

Research funding: Our research was supported by the Swiss National Science Foundation (grant no. CR33I3_140655 to VMS).
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2022-0356).

Received: 2022-07-14

Accepted: 2022-09-13

Published Online: 2022-10-13

Published in Print: 2023-01-27

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Supplementary Material

Articles in the same Issue

https://doi.org/10.1515/jpem-2022-0356

Keywords for this article

high throughput sequencing; MODY; monogenic diabetes