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Article

A case of maturity-onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant.

Journal of diabetes investigation - 1 Sept 2026

Takayoshi Tomofumi, Hirota Yushi, Sugawara Kenji, Sugano Aki, Ohta Mika, Takeuchi Takehito, Yamamoto Akane, Satake Wataru, Takaoka Yutaka, Ogawa Wataru

Abstract excerpt

AIMS/INTRODUCTION: Maturity-onset diabetes of the young (MODY) accounts for at least 1%-5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies. Only a few MODY cases associated with multiple gene variants have been reported. We here describe a rare case of MODY...

Read the complete abstract on PubMed

Topics

Female
Humans
Young Adult
Basic Helix-Loop-Helix Proteins
Diabetes Mellitus, Type 2
Hepatocyte Nuclear Factor 1-alpha

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42310870
DOI: 10.1111/jdi.70360
PMCID: PMC13398959

Genes

NEUROD1
HNF1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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