Evidence map›Paper›PMID 41894552›Full record

ArticleSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2026

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Gabby Atlas, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Peter I Hadiprajitno, Nurin Listyasari, Ardy Santosa, Achmad Zulfa Juniarto, David I Francis, Michele A O Apos Connell and 5 more

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Article in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 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

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

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

15 authors.

Gabby AtlasMurdoch Children's Research Institute, Melbourne, Victoria, Australia, gabby.atlas@mcri.edu.au.
Katrina M BellMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Gorjana RobevskaMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Jocelyn van den BergenMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Peter I HadiprajitnoFaculty of Medicine, Diponegoro University, Semarang, Indonesia.
Nurin ListyasariFaculty of Medicine, Diponegoro University, Semarang, Indonesia.
Ardy SantosaDepartment of Urology, Dr. Kariadi Hospital, Semarang, Indonesia.
Achmad Zulfa JuniartoFaculty of Medicine, Diponegoro University, Semarang, Indonesia.
David I FrancisVictorian Clinical Genetics Services, Melbourne, Victoria, Australia.
Michele A O Apos ConnellMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Tiong Yang TanMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Elena TuckerMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Sultana M H FaradzFaculty of Medicine, Diponegoro University, Semarang, Indonesia.
Andrew SinclairMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Katie AyersMurdoch Children's Research Institute, Melbourne, Victoria, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionDiagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing.

methodsSequencing data from a cohort of individuals with DSD were re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified through traditional sequencing analysis.

resultsA deletion was identified for an individual with gonadal dysgenesis that encompassed all exons of the gene WT1.

conclusionThis case reinforces the role of CNV analysis as part of genomic analysis, which holds exciting potential for improving diagnostic rates in the future.

Indexed as

Disorder of Sex Development, 46,XYDNA Copy Number VariationsSequence DeletionWT1 ProteinsChild, PreschoolHumansMaleWT1 protein, humanWT1 ProteinsChromosome aberrationsCopy number variationGenesGonadal dysgenesisSex determination/differentiation

Identifiers

PMID41894552
PMCPMC13293582

What Socratic holds

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Registered trials

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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.