ReviewMolecular biology reports2025
The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.
Review in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.Molecular genetics and genomics : MGG · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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