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Case Reports
. 2022 Oct 13;36(1):101-104.
doi: 10.1515/jpem-2022-0356. Print 2023 Jan 27.

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Julia Mührer  1   2 , Mariarosaria Lang-Muritano  1   2 , Roger Lehmann  3 , Jean-Louis Blouin  4   5 , Valerie M Schwitzgebel  6   7
Affiliations
Case Reports

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Julia Mührer et al. J Pediatr Endocrinol Metab. .

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.

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References

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