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<p>Hearing loss (HL) is the most common sensory disorder, characterized by a wide range of causes, including both environmental and genetic factors. While single-nucleotide variants (SNVs) and small insertions/deletions have been extensively studied, the role of structural variations (SVs) in hearing impairment has gained increasing recognition. This review article aims to provide a comprehensive overview of the importance of SVs in HL, by exploring the SVs associated with HL and their underlying pathogenic mechanisms. Additionally, diagnostic methods of SVs have been briefly evaluated and compared in general. Three major mechanisms by which SVs can lead to HL are gene disruption, gene dosage imbalance, and position effect. Furthermore, to facilitate the detection of SVs in HL, this review presents a table highlighting the key genes and genomic regions implicated in SVs and their diagnostic approaches associated with HL patients. In the next step, indications for the use of SV diagnostic techniques are compiled in another table in this article, which will help experts in choosing the most appropriate technique. At last, the comprehensive review presented here underscores the significant role of SVs in HL. Further research is required to fully elucidate the spectrum of SVs in HL and optimize the clinical use of SV detection methods in routine diagnostic procedures.</p>

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The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review

  • 期刊论文

  • 发表日期：

    2025年1月17日

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  • Maryam Naghinejad,
  • Sepideh Parvizpour,
  • Mahmoud Shekari Khaniani,
  • Maghsood Mehri,
  • Sima Mansoori Derakhshan,
  • Akbar Amirfiroozy

摘要

Hearing loss (HL) is the most common sensory disorder, characterized by a wide range of causes, including both environmental and genetic factors. While single-nucleotide variants (SNVs) and small insertions/deletions have been extensively studied, the role of structural variations (SVs) in hearing impairment has gained increasing recognition. This review article aims to provide a comprehensive overview of the importance of SVs in HL, by exploring the SVs associated with HL and their underlying pathogenic mechanisms. Additionally, diagnostic methods of SVs have been briefly evaluated and compared in general. Three major mechanisms by which SVs can lead to HL are gene disruption, gene dosage imbalance, and position effect. Furthermore, to facilitate the detection of SVs in HL, this review presents a table highlighting the key genes and genomic regions implicated in SVs and their diagnostic approaches associated with HL patients. In the next step, indications for the use of SV diagnostic techniques are compiled in another table in this article, which will help experts in choosing the most appropriate technique. At last, the comprehensive review presented here underscores the significant role of SVs in HL. Further research is required to fully elucidate the spectrum of SVs in HL and optimize the clinical use of SV detection methods in routine diagnostic procedures.