Медицинская библиотека · Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026

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

Atlas Gabby, Bell Katrina M, Robevska Gorjana, van den Bergen Jocelyn, Hadiprajitno Peter I, Listyasari Nurin, Santosa Ardy, Juniarto Achmad Zulfa, Francis David I, O Apos Connell Michele A, Tan Tiong Yang, Tucker Elena, Faradz Sultana M H, Sinclair Andrew, Ayers Katie

СтатьяКлинический случайПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Atlas Gabby, Bell Katrina M, Robevska Gorjana, van den Bergen Jocelyn, Hadiprajitno Peter I, Listyasari Nurin, Santosa Ardy, Juniarto Achmad Zulfa, Francis David I, O Apos Connell Michele A, Tan Tiong Yang, Tucker Elena, Faradz Sultana M H, Sinclair Andrew, Ayers Katie. <italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 2026. DOI: 10.1159/000551741.

Предметные рубрики MeSH

Humans Disorder of Sex Development, 46,XY DNA Copy Number Variations Sequence Deletion WT1 Proteins Male Child, Preschool

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