Functional validation of a non-canonical HNF1B splice-site variant in MODY5.

Xinran Gong, Li Zhang, Qiaobo Ma, Yingyu Zhang, Keyan Hu, Hongwei Jiang, Huifang Peng

Abstract readCase Reports

In one paragraph

Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in

0citing 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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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

7 authors.

Xinran GongHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Li ZhangDepartment of Endocrinology and Metabolism, Anyang Steel General Hospital, Anyang, China.

Qiaobo MaHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Yingyu ZhangHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Keyan HuHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Hongwei JiangHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Huifang PengHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mutations in the Methods: This combination of early onset, multiorgan involvement, and familial pattern strongly suggests monogenic diabetes, indicating the need for genetic analysis to confirm the diagnosis and guide management. This study performed genetic sequencing on a patient suspected of maturity-onset diabetes of the young (MODY), followed by a Minigene assay on the identified variant of uncertain significance. Results: Trio-whole-genome sequencing (Trio-WGS) identified the Conclusion: In this study, we identified a

Indexed as

Diabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-betaRNA Splice SitesHumansMaleMutationPedigreeRNA SplicingYoung AdultHepatocyte Nuclear Factor 1-betaHNF1B protein, humanRNA Splice SitesHNF1Bminigene experimentsMODY5renal cystsWGS

Identifiers

PMID42039128

DOI10.3389/fendo.2026.1777094

PMCPMC13106085

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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 Socratic graph.