Evidence map›Paper›PMID 41703530›Full record

ArticleBMC medical genomics2026

A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.

Yue Wang, Qiu Wang, Lijie Guan, Tiantian Jiang, Danping Wang, Ruiting Wu, Chuangjie Gu, Dan Wang, Yanke Zhu

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 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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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Yue WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Qiu WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Lijie GuanDepartment of Ultrasound, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, 325000, P.R. China.
Tiantian JiangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Danping WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Ruiting WuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Chuangjie GuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China.
Dan WangDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China. wd608044@wmu.edu.cn.
Yanke ZhuDepartment of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, No.2 Fuxue Road, Wenzhou, Zhejiang, 325000, P.R. China. zhuyanke@wmu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectiveThis study aims to elucidate the genetic cause of polycystic kidney disease detected in the proband during the fetal period and progressively worsening, thereby providing a reference for research on pediatric polycystic kidney disease.

methodsWhole-genome sequencing was performed on the proband and family members to identify pathogenic variants. The candidate variants were validated by Sanger sequencing. Finally, bioinformatics analysis tools were employed to predict and evaluate the pathogenicity.

resultsA previously unreported, de novo chromosomal inversion(GRCh38:17:g.36934029_37729559inv) was identified in the proband. This variant disrupts the HNF1B gene structure and causes Renal Cysts and Diabetes Syndrome (RCAD). DISCUSSION: Our study identifies (GRCh38:17:g.36934029_37729559inv) in HNF1B as a pathogenic variant underlying RCAD through gene disruption, expanding its known pathogenic variant spectrum. It highlights the value of whole-genome sequencing in detecting complex structural variants and provides crucial evidence for genetic counseling.

Indexed as

Chromosome InversionChromosomes, Human, Pair 17Hepatocyte Nuclear Factor 1-betaKidney Diseases, CysticCentral Nervous System DiseasesDental EnamelDiabetes Mellitus, Type 2FemaleHumansPedigreeWhole Genome SequencingHepatocyte Nuclear Factor 1-betaHNF1B protein, humanChromosomal inversionHNF1B geneRenal cysts and diabetes syndrome

Identifiers

PMID41703530
PMCPMC13014950

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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.