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<p>Schimke immunoosseous dysplasia (SIOD) is an uncommon inherited genetic disorder resulting from pathogenic variants in the <i>SMARCAL1</i> gene. This complex condition exhibits a wide range of clinical features, including skeletal abnormalities, steroid-resistant nephrotic syndrome, and immune system deficiencies. In this study, we report a case series of three patients diagnosed with SIOD, each harbouring copy number variants in the <i>SMARCAL1</i> gene. The cases expand the current understanding of the genetic diversity underlying SIOD and highlight the significance of copy number variations as a pathogenic mechanism. Our findings contribute to broadening the genotypic spectrum associated with SIOD and underscore the importance of comprehensive genetic analysis for accurate diagnosis and management of this rare disorder.</p>

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Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients

  • 期刊论文

  • 发表日期：

    2025年12月8日

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  • Aradhana Dwivedi,
  • Suprita Kalra,
  • Puneet Singh,
  • Aditi Sharma,
  • Divyanshi Sharma

摘要

Schimke immunoosseous dysplasia (SIOD) is an uncommon inherited genetic disorder resulting from pathogenic variants in the SMARCAL1 gene. This complex condition exhibits a wide range of clinical features, including skeletal abnormalities, steroid-resistant nephrotic syndrome, and immune system deficiencies. In this study, we report a case series of three patients diagnosed with SIOD, each harbouring copy number variants in the SMARCAL1 gene. The cases expand the current understanding of the genetic diversity underlying SIOD and highlight the significance of copy number variations as a pathogenic mechanism. Our findings contribute to broadening the genotypic spectrum associated with SIOD and underscore the importance of comprehensive genetic analysis for accurate diagnosis and management of this rare disorder.