What does this research mean for the field?

Copy number variant (CNV) analysis can identify diagnostic genetic causes, such as WT1 deletions, in individuals with 46,XY DSD who lack diagnostic single nucleotide variants. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

What question did this study set out to answer?

To assess the significance of copy number variant analysis in diagnosing 46,XY disorders of sexual development (DSD).

March 29, 2026Sexual Development0 citations

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WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis

GAGabby AtlasRoyal Children's Hospital KBKatrina M. BellRoyal Children's Hospital GRGorjana RobevskaMurdoch Children's Research Institute

Key Points

To assess the significance of copy number variant analysis in diagnosing 46,XY disorders of sexual development (DSD).
Re-analyzed sequencing data using a CNV-caller called Ximmer.
Focused on individuals with DSD who had no diagnostic single nucleotide variants initially.
Utilized exome/genome sequencing techniques.
Identified a deletion encompassing all exons of the WT1 gene in an individual with gonadal dysgenesis.
Demonstrated the relevance of CNV analysis in improving diagnostic rates.
Reinforced the need for integrating CNV analysis into standard genomic assessments.

Abstract

Introduction: Diagnostic 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. Methods: Sequencing data from a cohort of individuals with DSD was re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified through traditional sequencing analysis. Results: A deletion was identified for an individual with gonadal dysgenesis that encompassed all exons of the gene WT1. Conclusion: This case reinforces the role of CNV analysis as part of genomic analysis, which holds exciting potential for improving diagnostic rates in the future.

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WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis

Key Points

Abstract

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