Evidence map›Paper›PMID 39814389›Full record

ArticleInternal medicine (Tokyo, Japan)2025

A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes.

Jun-Ya Kaimori, Jun Matsuda, Asif Jan, Yuki Kawano, Takayuki Kawaoka, Yuta Asahina, Yohei Doi, Tatsufumi Oka, Miho Nagata, Yasuki Ishihara and 4 more

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In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. 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
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1 · What the graph read from it

What it found

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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

0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

14 authors.

Jun-Ya KaimoriDepartment of Health and Nutrition, Otemae University, Japan.
Jun MatsudaDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Asif JanDepartment of Pharmacy, University of Peshawar, Pakistan.
Yuki KawanoDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Takayuki KawaokaDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Yuta AsahinaDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Yohei DoiDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Tatsufumi OkaDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Miho NagataDepartment of Cardiology, The University of Osaka Graduate School of Medicine, Japan.
Yasuki IshiharaDepartment of Cardiology, The University of Osaka Graduate School of Medicine, Japan.
Yohei MiyashitaDepartment of Cardiology, The University of Osaka Graduate School of Medicine, Japan.
Toshihiro AsanoDepartment of Cardiology, The University of Osaka Graduate School of Medicine, Japan.
Yusuke SakaguchiDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
Yoshitaka IsakaDepartment of Nephrology, The University of Osaka Graduate School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p.L264Ffs*30) using whole-exome sequencing of genomic DNA samples from this family. This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.

Indexed as

Hepatocyte Nuclear Factor 1-betaNephritis, InterstitialFemaleHeterozygoteHumansMalePedigreePhenotypeHepatocyte Nuclear Factor 1-betaHNF1B protein, humanautosomal dominant tubulointerstitial kidney disease (ADTKD)HNF1Bwhole-exome sequencing

Identifiers

PMID39814389
PMCPMC12331278

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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.