Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young.

doi:10.1007/s00592-026-02731-3

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Article

Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young.

Acta diabetologica - 1 Sept 2026

Li Jianhua, Zhang Juan, Ren Shuxin, Liu Yanxia, Wu Cong, Dong Jie, Zhu Chaofeng, Chen Sufang, Zhang Huijuan, Li Tianyi, Jiang Yanyan

Abstract excerpt

AIMS: Few families with maturity-onset diabetes of the young (MODY) caused by neurogenic differentiation factor 1 (NEUROD1) mutations have been identified. The aim of this study is to identify the affected gene in a Chinese family with MODY using whole exome sequencing (WES) and explore the potential pathogenicity of the identified mutation. METHODS: WES was performed in patients with clinically suspected MODY,...

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Topics

Adult
Female
Humans
Male
Middle Aged
Basic Helix-Loop-Helix Proteins

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

China

Diabetes Mellitus, Type 2

Exome Sequencing

Mutation

Mutation, Missense

Pedigree

East Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 42329280
DOI: 10.1007/s00592-026-02731-3
PMCID: PMC13534152

Genes

NEUROD1

Variants

Provenance

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