Evidence map›Paper›PMID 40260864›Full record

ArticleMolecular genetics & genomic medicine2025

SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.

Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Yijing LiNational Center for International Research in Cell and Gene Therapy, Sino-British Research Centre for Molecular Oncology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.ORCID https://orcid.org/0009-0006-7379-1554
Tao SunDepartment of Clinical Medicine, Henan Medical College, Zhengzhou, China.
Sang HuPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Zhengzhou, China.
Hongen XuPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Zhengzhou, China.ORCID https://orcid.org/0000-0001-7895-0899
Teng ZhangPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Zhengzhou, China.
Jinlong LiuNational Center for International Research in Cell and Gene Therapy, Sino-British Research Centre for Molecular Oncology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.
Shuangshuang LuNational Center for International Research in Cell and Gene Therapy, Sino-British Research Centre for Molecular Oncology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.
Bing WangDepartment of Obstetrics and Gynecology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Guo DanLaboratory of Hearing Loss Mechanism, Henan Provincial Medical Key Laboratory, Zhengzhou, China.

Funding

Henan Province Science and Technology International Co-operation Project 242102521022Henan Provincial Health and Wellness Commission Key Laboratory of Hearing Loss Mechanism ResearchKey Laboratory for Quality Control of In Vitro Diagnostic Reagents, National Medical Products Administration ZD-2022-02
6 · The paper itself

Abstract

backgroundSLC26A4 is the second most common cause of hereditary hearing loss worldwide. This gene predominantly harbors pathogenic variants, including splice, nonsense, and missense. Although missense variants are relatively common, their specific effects on protein function remain unclear. Consequently, there is an urgent need to establish an in vitro system to investigate how these variants impact SLC26A4 protein function.

methodsGenetic testing was conducted to determine the specific types of underlying genetic variants in patients. Following this, we employed plasmid transfection to evaluate the effects of the variants on both protein expression levels and the protein's subcellular localization. Thereafter, we transformed peripheral blood mononuclear cells (PBMCs) from the proband into induced pluripotent stem cells (iPSCs) through Sendai virus-mediated transduction.

resultsGenetic testing revealed that the proband carried compound heterozygous variants: SLC26A4 c.919-2A > G and c.317C > A. The c.317C > A variant markedly decreased the expression levels of SLC26A4 mRNA and its encoded protein. Additionally, it led to the protein's accumulation in the cytoplasm as aggregates. We successfully reprogrammed peripheral blood mononuclear cells from the proband into induced pluripotent stem cells (iPSCs) and verified that these iPSCs retained their pluripotency, differentiation potential, and genetic integrity.

conclusionThese results provide important insights into the mechanisms by which SLC26A4 gene variants lead to hearing loss.

Indexed as

Induced Pluripotent Stem CellsSulfate TransportersCell DifferentiationHumansLeukocytes, MononuclearSLC26A4 protein, humanSulfate Transportersc.317C > ahearing lossiPSCsSLC26A4

Identifiers

PMID40260864
PMCPMC12012755

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.