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

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

J Pediatr Endocrinol Metab. 2022 Oct 13;36(1):101-104. doi: 10.1515/jpem-2022-0356. Print 2023 Jan 27.

Authors

Julia Mührer^{1

2}, Mariarosaria Lang-Muritano^{1

2}, Roger Lehmann³, Jean-Louis Blouin^{4

5}, Valerie M Schwitzgebel^{6

7}

Affiliations

¹ Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.
² Children's Research Center, University Children's Hospital, Zurich, Switzerland.
³ Department of Endocrinology, Diabetes, and Clinical Nutrition and of Transplant Center, University Hospital Zurich, Zurich, Switzerland.
⁴ Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
⁵ Department of Diagnostics, University Hospitals of Geneva, Geneva, Switzerland.
⁶ Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva Geneva, Switzerland.
⁷ Diabetes Center of the Faculty of Medicine, University of Geneva Geneva, Switzerland.

PMID: 36222545
DOI: 10.1515/jpem-2022-0356

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: MODY; high throughput sequencing; monogenic diabetes.

Publication types

Case Reports

MeSH terms

Basic Helix-Loop-Helix Transcription Factors / genetics
Diabetes Mellitus, Type 1* / genetics
Diabetes Mellitus, Type 2* / genetics
Diabetes Mellitus, Type 2* / metabolism
Family
High-Throughput Nucleotide Sequencing
Humans
Mutation
Pedigree
Phenotype

Substances

NEUROD1 protein, human
Basic Helix-Loop-Helix Transcription Factors