Evidence map›Paper›PMID 39533813›Full record

ArticleDiabetes & metabolism journal2025

Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes.

Siqian Gong, Hong Lian, Yating Li, Xiaoling Cai, Wei Liu, Yingying Luo, Meng Li, Si-Min Zhang, Rui Zhang, Lingli Zhou and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diabetes & metabolism journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Siqian Gong *Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Hong Lian *Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Yating Li *Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xiaoling CaiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Wei LiuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Yingying LuoDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Meng LiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Si-Min ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Rui ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Lingli ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Yu ZhuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Qian RenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xiuying ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Jing ChenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Jing WuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xianghai ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xirui WangDepartment of Endocrinology and Metabolism, Beijing Airport Hospital, Beijing, China.
Xueyao HanDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Linong JiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.

Funding

Beijing Science and Technology Committee Fund D131100005313008Beijing Science and Technology Committee Fund Z141100007414002Beijing Science and Technology Committee Fund Z201100005520012National Key Research and development Program of China 2016YFC1304901
6 · The paper itself

Abstract

backgruoundMaturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.

methodsAmong 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.

resultsTwo rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.

conclusionMODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Indexed as

Diabetes Mellitus, Type 2ExonsHepatocyte Nuclear Factor 1-betaAdolescentAdultAge of OnsetChildChinaEast Asian PeopleFemaleHumansMaleMutation, MissenseYoung AdultHepatocyte Nuclear Factor 1-betaHNF1B protein, humanDiabetes mellitusDiabetes mellitus, type 2Genetics, medicalMaturity onset diabetes of the young, type 5Prevalence

Identifiers

PMID39533813
PMCPMC11960207

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.