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

Year: 2026

Type: article

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 were 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.

Source: Sexual Development

DOI: 10.1159/000551741

Authors: 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'Connell, Tiong Yang Tan, Elena Tucker, Sultana M.H. Faradz, Andrew Sinclair, Katie Ayers

Institutions: Royal Children's Hospital, The University of Melbourne, Murdoch Children's Research Institute, Yarsi University, Diponegoro University, Dr. Kariadi Hospital, Victorian Clinical Genetics Services

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7141218472

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Cites: 32

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