Evidence map›Paper›PMID 33942367›Full record

ArticleJournal of clinical laboratory analysis2021

A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.

Faliang Wang, Jiabin Cai, Jinhu Wang, Min He, Junqing Mao, Kun Zhu, Manli Zhao, Zhonghai Guan, Linjie Li, Hongchuan Jin and 1 more

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

Article in Journal of clinical laboratory analysis, 2021. 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

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

2 citing papers in PubMed.

  1. FamilialWorld journal of nephrology · 2026
    Article
  2. Genotype-phenotype correlation ofFrontiers in pediatrics · 2023
    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

11 authors.

Faliang WangDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.ORCID https://orcid.org/0000-0002-8603-736X
Jiabin CaiDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Jinhu WangDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Min HeDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Junqing MaoDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Kun ZhuDepartment of Pathology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Manli ZhaoDepartment of Pathology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Zhonghai GuanDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Linjie LiDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.
Hongchuan JinLaboratory of Cancer Biology, Key Lab of Biotherapy in Zhejiang, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Qiang ShuDepartment of Surgical Oncology, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Hangzhou, China.

Funding

Health Commission of Zhejiang Province 2019KY093National Natural Foundation of China 81801939
6 · The paper itself

Abstract

objectiveDenys-Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision-making.

methodsWe present a patient with an XY karyotype and female appearance, nephropathy, and Wilms tumor in the right kidney. Genomic DNA was extracted from peripheral blood cells according to standard protocols. "Next-generation" sequencing (NGS) was performed to identify novel variants. The variant was analyzed with Mutation Taster, and its function was explored by a cell growth inhibition assay.

resultsWe found the first case of Denys-Drash syndrome with the uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene. In silico analysis, the variant was predicted "disease-causing" by Mutation Taster. The mutated variant showed a weaker effect in inhibiting tumor cells than wild-type WT1.

conclusionsThe uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene may be a crucial marker in DDS.

Indexed as

Amino Acid SequenceAsian PeopleBase SequenceCell Line, TumorChinaComputer SimulationDenys-Drash SyndromeFemaleFollow-Up StudiesHumansInfantLaparoscopyMutationPedigreeTomography, X-Ray ComputedWilms TumorWT1 protein, humanWT1 Proteins46Denys-Drash syndrome (DDS)nephrotic syndromeWilms tumorWilms tumor-1 (WT1)XY karyotype

Identifiers

PMID33942367
PMCPMC8128316

What OpenQuestion 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 OpenQuestion graph.