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Introduction <p>Wilms tumor 1 (<i>WT1</i>)-related disorders are a group of hereditary disorders caused by alterations in the <i>WT1</i> gene. <i>WT1</i> expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen. <i>WT1</i> variants might lead to nephrotic syndromes or disorders in gonadal development.</p> Objective <p>An observational study has been established. Cytogenetic and molecular studies were performed on a patient with urogenital impairments to identify the underlying genetic cause.</p> Methods <p>Fluorescence in situ hybridization (FISH) was conducted on gonadal cell culture at the centromeric region of both X and Y chromosomes. Exome sequencing and segregation analysis by Sanger sequencing of the <i>WT1</i> gene coding exon for the patient and the parents have been done. Computational studies were performed to predict the effect of novel variants.</p> Results <p>The studied patient had a de novo heterozygous novel variant in the WT1 gene. Mixed gonadal dysgenesis (MGD) was also detected, in addition to the heterozygous (p.K464R) novel variant in the <i>WT1</i> gene.</p> Conclusion <p>Pathogenic variants in the <i>WT1</i> gene cause a wide range of phenotypes and allelic syndromes that could be related to the multiple isoforms produced. Sequencing of the <i>WT1</i> gene can efficiently diagnose patients with 46,XY DSD, and renal anomalies. More research is required to identify the genetic basis of primary, undefined ureteropelvic junction obstruction. Follow-up is essential in <i>WT1</i>-related disorders to prevent tumor development and/or end-stage renal failure progression.</p>

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Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月4日

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  • Heba A. Hassan,
  • Inas Mazen,
  • Mona K. Mekkawy,
  • Aya Elaidy,
  • Alaa Kamel,
  • Mona L. Essawi

摘要

Introduction

Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen. WT1 variants might lead to nephrotic syndromes or disorders in gonadal development.

Objective

An observational study has been established. Cytogenetic and molecular studies were performed on a patient with urogenital impairments to identify the underlying genetic cause.

Methods

Fluorescence in situ hybridization (FISH) was conducted on gonadal cell culture at the centromeric region of both X and Y chromosomes. Exome sequencing and segregation analysis by Sanger sequencing of the WT1 gene coding exon for the patient and the parents have been done. Computational studies were performed to predict the effect of novel variants.

Results

The studied patient had a de novo heterozygous novel variant in the WT1 gene. Mixed gonadal dysgenesis (MGD) was also detected, in addition to the heterozygous (p.K464R) novel variant in the WT1 gene.

Conclusion

Pathogenic variants in the WT1 gene cause a wide range of phenotypes and allelic syndromes that could be related to the multiple isoforms produced. Sequencing of the WT1 gene can efficiently diagnose patients with 46,XY DSD, and renal anomalies. More research is required to identify the genetic basis of primary, undefined ureteropelvic junction obstruction. Follow-up is essential in WT1-related disorders to prevent tumor development and/or end-stage renal failure progression.